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:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | CASR CL E G H | 846 | 1514 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 272 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | CD55 CL E G H | 1604 | 2665 | OMIM:226300 | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | | | | 9 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 1371 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | CPA1 CL E G H | 1357 | 2296 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 5 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:33402 | Pediatric hepatocellular carcinoma | | | | 88 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | CTRC CL E G H | 11330 | 2523 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 39 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | EPAS1 CL E G H | 2034 | 3374 | OMIM:611783 | ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4 | | | | 112 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | | | | 57 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 3 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | MET CL E G H | 4233 | 7029 | ORPHA:33402 | Pediatric hepatocellular carcinoma | | | | 375 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | | | | 97 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | | | | 452 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 36 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | | | | 46 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | PIGM CL E G H | 93183 | 18858 | OMIM:610293 | Glycosylphosphatidylinositol deficiency | | | | 6 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | PRSS1 CL E G H | 5644 | 9475 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 51 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | PRSS2 CL E G H | 5645 | 9483 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 1 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | SERPINC1 CL E G H | 462 | 775 | ORPHA:82 | Hereditary thrombophilia due to congenital antithrombin deficiency | | | | 88 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 109 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | SPINK1 CL E G H | 6690 | 11244 | ORPHA:676 | Hereditary chronic pancreatitis | HP:0040283 - Occasional | | | 34 | | |
HP:0030247 | HP:0030247 | Splanchnic vein thrombosis | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | | | | 3 | | |
HP:0030247 | HP:0030243 | Hepatic vein thrombosis | 1 | CD55 CL E G H | 1604 | 2665 | OMIM:226300 | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | . | | | 9 | | |
HP:0030247 | HP:0030242 | Portal vein thrombosis | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:33402 | Pediatric hepatocellular carcinoma | HP:0040282 - Frequent | | | 88 | | |
HP:0030247 | HP:0030248 | Mesenteric venous thrombosis | 1 | EPAS1 CL E G H | 2034 | 3374 | OMIM:611783 | ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4 | | | | 112 | | |
HP:0030247 | HP:0030242 | Portal vein thrombosis | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | HP:0040283 - Occasional | | | 57 | | |
HP:0030247 | HP:0030242 | Portal vein thrombosis | 1 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040284 - Very rare | | | 3 | | |
HP:0030247 | HP:0030242 | Portal vein thrombosis | 1 | MET CL E G H | 4233 | 7029 | ORPHA:33402 | Pediatric hepatocellular carcinoma | HP:0040282 - Frequent | | | 375 | | |
HP:0030247 | HP:0030242 | Portal vein thrombosis | 1 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | HP:0040283 - Occasional | | | 97 | | |
HP:0030247 | HP:0030242 | Portal vein thrombosis | 1 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | HP:0040283 - Occasional | | | 452 | | |
HP:0030247 | HP:0030242 | Portal vein thrombosis | 1 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040284 - Very rare | | | 36 | | |
HP:0030247 | HP:0030248 | Mesenteric venous thrombosis | 1 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040283 - Occasional | | | 46 | | |
HP:0030247 | HP:0030242 | Portal vein thrombosis | 1 | PIGM CL E G H | 93183 | 18858 | OMIM:610293 | Glycosylphosphatidylinositol deficiency | . | | | 6 | | |
HP:0030247 | HP:0030243 | Hepatic vein thrombosis | 1 | PIGM CL E G H | 93183 | 18858 | OMIM:610293 | Glycosylphosphatidylinositol deficiency | . | | | 6 | | |
HP:0030247 | HP:0030242 | Portal vein thrombosis | 1 | SERPINC1 CL E G H | 462 | 775 | ORPHA:82 | Hereditary thrombophilia due to congenital antithrombin deficiency | HP:0040283 - Occasional | | | 88 | | |
HP:0030247 | HP:0030243 | Hepatic vein thrombosis | 1 | SERPINC1 CL E G H | 462 | 775 | ORPHA:82 | Hereditary thrombophilia due to congenital antithrombin deficiency | HP:0040283 - Occasional | | | 88 | | |
HP:0030247 | HP:0030248 | Mesenteric venous thrombosis | 1 | SERPINC1 CL E G H | 462 | 775 | ORPHA:82 | Hereditary thrombophilia due to congenital antithrombin deficiency | HP:0040283 - Occasional | | | 88 | | |
HP:0030247 | HP:0030242 | Portal vein thrombosis | 1 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040284 - Very rare | | | 109 | | |
HP:0030247 | HP:0030242 | Portal vein thrombosis | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | HP:0040283 - Occasional | | | 3 | | |