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:0001934 | HP:0001934 | Persistent bleeding after trauma | 0 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040283 - Occasional | | | 60 | | |
HP:0001934 | HP:0001934 | Persistent bleeding after trauma | 0 | F13A1 CL E G H | 2162 | 3531 | OMIM:613225 | Factor XIII, A subunit, deficiency of | | | | 60 | | |
HP:0001934 | HP:0001934 | Persistent bleeding after trauma | 0 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040283 - Occasional | | | 32 | | |
HP:0001934 | HP:0001934 | Persistent bleeding after trauma | 0 | F5 CL E G H | 2153 | 3542 | ORPHA:326 | Congenital factor V deficiency | HP:0040283 - Occasional | | | 159 | | |
HP:0001934 | HP:0001934 | Persistent bleeding after trauma | 0 | F8 CL E G H | 2157 | 3546 | OMIM:306700 | Hemophilia A | . | | | 303 | | |
HP:0001934 | HP:0001934 | Persistent bleeding after trauma | 0 | F8 CL E G H | 2157 | 3546 | ORPHA:169802 | Severe hemophilia A | HP:0040282 - Frequent | | | 303 | | |
HP:0001934 | HP:0001934 | Persistent bleeding after trauma | 0 | F9 CL E G H | 2158 | 3551 | OMIM:306900 | Hemophilia B | . | | | 143 | | |
HP:0001934 | HP:0001934 | Persistent bleeding after trauma | 0 | FGA CL E G H | 2243 | 3661 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 47 | | |
HP:0001934 | HP:0001934 | Persistent bleeding after trauma | 0 | FGB CL E G H | 2244 | 3662 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 62 | | |
HP:0001934 | HP:0001934 | Persistent bleeding after trauma | 0 | FGG CL E G H | 2266 | 3694 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 34 | | |
HP:0001934 | HP:0001934 | Persistent bleeding after trauma | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:300367 | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | . | | | 29 | | |
HP:0001934 | HP:0001934 | Persistent bleeding after trauma | 0 | MCFD2 CL E G H | 90411 | 18451 | OMIM:613625 | Factor V and factor VIII, combined deficiency of | . | | | 77 | | |
HP:0001934 | HP:0001934 | Persistent bleeding after trauma | 0 | P2RY12 CL E G H | 64805 | 18124 | OMIM:609821 | Bleeding disorder, platelet-type, 8 | | | | 5 | | |
HP:0001934 | HP:0001934 | Persistent bleeding after trauma | 0 | SERPINE1 CL E G H | 5054 | 8583 | ORPHA:465 | Congenital plasminogen activator inhibitor type 1 deficiency | HP:0040281 - Very frequent | | | 39 | | |
HP:0001934 | HP:0001934 | Persistent bleeding after trauma | 0 | SERPINF2 CL E G H | 5345 | 9075 | ORPHA:79 | Congenital alpha2-antiplasmin deficiency | HP:0040281 - Very frequent | | | 8 | | |
HP:0001934 | HP:0001934 | Persistent bleeding after trauma | 0 | SERPINF2 CL E G H | 5345 | 9075 | OMIM:262850 | Plasmin inhibitor deficiency | . | | | 8 | | |
HP:0001934 | HP:0001934 | Persistent bleeding after trauma | 0 | VWF CL E G H | 7450 | 12726 | OMIM:193400 | Von willebrand disease, type 1 | | | | 533 | | |
HP:0001934 | HP:0001934 | Persistent bleeding after trauma | 0 | VWF CL E G H | 7450 | 12726 | OMIM:277480 | Von willebrand disease, type 3 | . | | | 533 | | |