Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | F10 CL E G H | 2159 | 3528 | ORPHA:328 | Congenital factor X deficiency | HP:0040283 - Occasional | | | 33 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | F10 CL E G H | 2159 | 3528 | OMIM:227600 | Factor X deficiency | . | | | 33 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | F11 CL E G H | 2160 | 3529 | ORPHA:329 | Congenital factor XI deficiency | HP:0040284 - Very rare | | | 132 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040282 - Frequent | | | 60 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | F13A1 CL E G H | 2162 | 3531 | OMIM:613225 | Factor XIII, A subunit, deficiency of | . | | | 60 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | F2 CL E G H | 2147 | 3535 | ORPHA:325 | Congenital factor II deficiency | HP:0040282 - Frequent | | | 44 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | F2 CL E G H | 2147 | 3535 | OMIM:613679 | Congenital prothrombin deficiency | . | | | 44 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | F5 CL E G H | 2153 | 3542 | ORPHA:326 | Congenital factor V deficiency | HP:0040282 - Frequent | | | 159 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | F7 CL E G H | 2155 | 3544 | ORPHA:327 | Congenital factor VII deficiency | HP:0040282 - Frequent | | | 70 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | F7 CL E G H | 2155 | 3544 | OMIM:227500 | Factor VII deficiency | . | | | 70 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | F8 CL E G H | 2157 | 3546 | ORPHA:177926 | Bleeding disorder in hemophilia A carriers without FVIII deficiency | HP:0040283 - Occasional | | | 303 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | F8 CL E G H | 2157 | 3546 | OMIM:306700 | Hemophilia A | . | | | 303 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | F8 CL E G H | 2157 | 3546 | ORPHA:169805 | Moderate hemophilia A | HP:0040282 - Frequent | | | 303 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | F8 CL E G H | 2157 | 3546 | ORPHA:169802 | Severe hemophilia A | HP:0040282 - Frequent | | | 303 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | F9 CL E G H | 2158 | 3551 | OMIM:306900 | Hemophilia B | . | | | 143 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | GGCX CL E G H | 2677 | 4247 | OMIM:277450 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 | . | | | 129 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | LMAN1 CL E G H | 3998 | 6631 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | HP:0040283 - Occasional | | | 56 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | MCFD2 CL E G H | 90411 | 18451 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | HP:0040283 - Occasional | | | 77 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | PLAU CL E G H | 5328 | 9052 | OMIM:601709 | Quebec platelet disorder | . | | | 50 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | SERPINE1 CL E G H | 5054 | 8583 | ORPHA:465 | Congenital plasminogen activator inhibitor type 1 deficiency | HP:0040284 - Very rare | | | 39 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | SERPINF2 CL E G H | 5345 | 9075 | ORPHA:79 | Congenital alpha2-antiplasmin deficiency | HP:0040281 - Very frequent | | | 8 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | SERPINF2 CL E G H | 5345 | 9075 | OMIM:262850 | Plasmin inhibitor deficiency | . | | | 8 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | VWF CL E G H | 7450 | 12726 | OMIM:193400 | Von willebrand disease, type 1 | . | | | 533 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | VWF CL E G H | 7450 | 12726 | OMIM:277480 | Von willebrand disease, type 3 | HP:0040283 - Occasional | | | 533 | | |
HP:0005261 | HP:0005261 | Joint hemorrhage | 0 | WAS CL E G H | 7454 | 12731 | OMIM:313900 | Thrombocytopenia 1 | . | | | 65 | | |