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:0030137 | HP:0030137 | Prolonged bleeding following circumcision | 0 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040283 - Occasional | | | 60 | | |
HP:0030137 | HP:0030137 | Prolonged bleeding following circumcision | 0 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040283 - Occasional | | | 32 | | |
HP:0030137 | HP:0030137 | Prolonged bleeding following circumcision | 0 | F2 CL E G H | 2147 | 3535 | ORPHA:325 | Congenital factor II deficiency | HP:0040283 - Occasional | | | 44 | | |
HP:0030137 | HP:0030137 | Prolonged bleeding following circumcision | 0 | F5 CL E G H | 2153 | 3542 | ORPHA:326 | Congenital factor V deficiency | HP:0040283 - Occasional | | | 159 | | |
HP:0030137 | HP:0030137 | Prolonged bleeding following circumcision | 0 | F8 CL E G H | 2157 | 3546 | ORPHA:169802 | Severe hemophilia A | HP:0040283 - Occasional | | | 303 | | |
HP:0030137 | HP:0030137 | Prolonged bleeding following circumcision | 0 | FGA CL E G H | 2243 | 3661 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 47 | | |
HP:0030137 | HP:0030137 | Prolonged bleeding following circumcision | 0 | FGB CL E G H | 2244 | 3662 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 62 | | |
HP:0030137 | HP:0030137 | Prolonged bleeding following circumcision | 0 | FGG CL E G H | 2266 | 3694 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 34 | | |
HP:0030137 | HP:0030137 | Prolonged bleeding following circumcision | 0 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:849 | Glanzmann thrombasthenia | HP:0040282 - Frequent | | | 69 | | |
HP:0030137 | HP:0030137 | Prolonged bleeding following circumcision | 0 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:849 | Glanzmann thrombasthenia | HP:0040282 - Frequent | | | 80 | | |
HP:0030137 | HP:0030137 | Prolonged bleeding following circumcision | 0 | LMAN1 CL E G H | 3998 | 6631 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | HP:0040282 - Frequent | | | 56 | | |
HP:0030137 | HP:0030137 | Prolonged bleeding following circumcision | 0 | MCFD2 CL E G H | 90411 | 18451 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | HP:0040282 - Frequent | | | 77 | | |
HP:0030137 | HP:0030137 | Prolonged bleeding following circumcision | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |