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:0030976 | HP:0030976 | Abnormal factor VIII activity | 0 | F8 CL E G H | 2157 | 3546 | ORPHA:177926 | Bleeding disorder in hemophilia A carriers without FVIII deficiency | | | | 303 | | |
HP:0030976 | HP:0030976 | Abnormal factor VIII activity | 0 | F8 CL E G H | 2157 | 3546 | OMIM:306700 | Hemophilia A | | | | 303 | | |
HP:0030976 | HP:0030976 | Abnormal factor VIII activity | 0 | F8 CL E G H | 2157 | 3546 | ORPHA:169805 | Moderate hemophilia A | | | | 303 | | |
HP:0030976 | HP:0030976 | Abnormal factor VIII activity | 0 | F8 CL E G H | 2157 | 3546 | ORPHA:169802 | Severe hemophilia A | | | | 303 | | |
HP:0030976 | HP:0030976 | Abnormal factor VIII activity | 0 | F8 CL E G H | 2157 | 3546 | OMIM:301071 | THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13 | | | | 303 | | |
HP:0030976 | HP:0030976 | Abnormal factor VIII activity | 0 | LMAN1 CL E G H | 3998 | 6631 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | | | | 56 | | |
HP:0030976 | HP:0030976 | Abnormal factor VIII activity | 0 | LMAN1 CL E G H | 3998 | 6631 | OMIM:227300 | Factor V and factor VIII, combined deficiency of | | | | 56 | | |
HP:0030976 | HP:0030976 | Abnormal factor VIII activity | 0 | MCFD2 CL E G H | 90411 | 18451 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | | | | 77 | | |
HP:0030976 | HP:0030976 | Abnormal factor VIII activity | 0 | MCFD2 CL E G H | 90411 | 18451 | OMIM:613625 | Factor V and factor VIII, combined deficiency of | | | | 77 | | |
HP:0030976 | HP:0030976 | Abnormal factor VIII activity | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0030976 | HP:0030976 | Abnormal factor VIII activity | 0 | VWF CL E G H | 7450 | 12726 | OMIM:193400 | Von willebrand disease, type 1 | | | | 533 | | |
HP:0030976 | HP:0030976 | Abnormal factor VIII activity | 0 | VWF CL E G H | 7450 | 12726 | OMIM:277480 | Von willebrand disease, type 3 | | | | 533 | | |
HP:0030976 | HP:0003125 | Reduced factor VIII activity | 1 | F8 CL E G H | 2157 | 3546 | ORPHA:177926 | Bleeding disorder in hemophilia A carriers without FVIII deficiency | HP:0040281 - Very frequent | | | 303 | | |
HP:0030976 | HP:0003125 | Reduced factor VIII activity | 1 | F8 CL E G H | 2157 | 3546 | OMIM:306700 | Hemophilia A | . | | | 303 | | |
HP:0030976 | HP:0003125 | Reduced factor VIII activity | 1 | F8 CL E G H | 2157 | 3546 | ORPHA:169805 | Moderate hemophilia A | HP:0040281 - Very frequent | | | 303 | | |
HP:0030976 | HP:0003125 | Reduced factor VIII activity | 1 | F8 CL E G H | 2157 | 3546 | ORPHA:169802 | Severe hemophilia A | HP:0040281 - Very frequent | | | 303 | | |
HP:0030976 | HP:0030977 | Increased factor VIII activity | 1 | F8 CL E G H | 2157 | 3546 | OMIM:301071 | THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13 | | | | 303 | | |
HP:0030976 | HP:0003125 | Reduced factor VIII activity | 1 | LMAN1 CL E G H | 3998 | 6631 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | HP:0040281 - Very frequent | | | 56 | | |
HP:0030976 | HP:0003125 | Reduced factor VIII activity | 1 | LMAN1 CL E G H | 3998 | 6631 | OMIM:227300 | Factor V and factor VIII, combined deficiency of | . | | | 56 | | |
HP:0030976 | HP:0003125 | Reduced factor VIII activity | 1 | MCFD2 CL E G H | 90411 | 18451 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | HP:0040281 - Very frequent | | | 77 | | |
HP:0030976 | HP:0003125 | Reduced factor VIII activity | 1 | MCFD2 CL E G H | 90411 | 18451 | OMIM:613625 | Factor V and factor VIII, combined deficiency of | | | | 77 | | |
HP:0030976 | HP:0003125 | Reduced factor VIII activity | 1 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0030976 | HP:0003125 | Reduced factor VIII activity | 1 | VWF CL E G H | 7450 | 12726 | OMIM:193400 | Von willebrand disease, type 1 | . | | | 533 | | |
HP:0030976 | HP:0003125 | Reduced factor VIII activity | 1 | VWF CL E G H | 7450 | 12726 | OMIM:277480 | Von willebrand disease, type 3 | . | | | 533 | | |