Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adrenoleukodystrophy | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar | PMID:28492532 | autistic disorder | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Autistic disorder of childhood onset | ClinVar | PMID:21681106, PMID:30208311 | autosomal hemophilia A | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Mild hemophilia A | ClinVar | PMID:29357978 | blood coagulation disease | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Blood coagulation disorder | ClinVar | PMID:25741868, PMID:31064749 | blood coagulation disease | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Blood coagulation disorder | ClinVar | PMID:25741868 more ... | blood coagulation disease | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Blood coagulation disorder | ClinVar | PMID:1301932 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1924291, PMID:6438527 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:15710596, PMID:25741868 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:32581362 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:11857744 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar | PMID:16786531, PMID:24108539 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:18217193 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:10609755 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:19377476 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar | PMID:10910913 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar | PMID:11554935 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar | PMID:20301578 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar | PMID:11442643 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:25708597 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:21645226, PMID:24108539 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar | PMID:10404764 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar | PMID:15735794 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:1301932 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:25741868 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:2498882 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:1908096 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:25741868 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:25741868 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:1301932 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:2104741 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:1924291 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:25741868 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:1924291 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:1301932 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:1349567 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A, FVIII Deficiency | ClinVar | PMID:25741868, PMID:28492532 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A, FVIII Deficiency | ClinVar | PMID:28492532 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:18691168 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:1301932, PMID:7728145 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:1908096 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar | PMID:10215414 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A, congenital | ClinVar | PMID:10404764 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:20028422, PMID:20108389 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:18600086 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:1523102 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar | PMID:18184865 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:20331753, PMID:29296726 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:23913812 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:7984443 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar | PMID:11410838 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:2563431 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:19473408, PMID:9792405 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:8490618 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:20102490 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar | PMID:10404764 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:12871415, PMID:29296726 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:1924291 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:2986011 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:2901224, PMID:3097553 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:23812942 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar | PMID:10404764 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar | PMID:10338101 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar | PMID:12204009 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar | PMID:10404764 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:21689372 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1908096 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1357455 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1924291, PMID:8281136 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1979502, PMID:8281136 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1349567 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:8281136 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:6438527, PMID:8281136 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:2493803 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:25741868 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1639429, PMID:8307558 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:6438527, PMID:8497853 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1301932, PMID:6438527 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1523102 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1643024, PMID:3035554 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar | PMID:10519986 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:11713379 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:7662970 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1969840, PMID:7728145 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar | PMID:17498081 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2159433 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2835307 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2901224 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:8322269 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:12351418 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1923751 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1643024 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2831458 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:12406074 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2121641 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:8054459 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2907841 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1559571 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1908096 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2887317 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2105106 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2861360 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2110545 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2105906, PMID:2107542 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1979502 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1301932 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2833855 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1908096 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:8485051 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2107542 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1412186, PMID:1908096 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:8052958 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2473810 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2106480 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1569180 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2105906 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1349567, PMID:7728145 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1639429 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:8307558 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:8497853 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2110545 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1349567, PMID:1979502 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1924291 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:3122181 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A | ClinVar | PMID:25741868, PMID:31064749 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2833855, PMID:3131627 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:7728145 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:11110718 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1523102 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1840568 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A, FVIII Deficiency | ClinVar | PMID:17209060 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia A, FVIII Deficiency | ClinVar | PMID:15921397 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:8069313 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2987704 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2510835 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1924291, PMID:7728145 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1908096, PMID:7728145 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1301194 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1412186 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2109644, PMID:2506948 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1301932 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:3097553 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:8449505 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2833855, PMID:6253938 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1349567 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1301960 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1301932, PMID:8307558 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2104741 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1301932 more ... | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:1908817 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:3035554 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:2125022 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:6438527, PMID:8307558 | factor VIII deficiency | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by OMIM:306700 | ClinVar | PMID:6438527, PMID:7728145 | genetic disease | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:19473423 more ... | genetic disease | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:19473423, PMID:21371196 | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease | ClinVar | PMID:25741868, PMID:31064749 | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia B | ClinVar | PMID:11857744 more ... | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia B | ClinVar | PMID:2104741 more ... | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia B | ClinVar | PMID:25741868 more ... | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia B | ClinVar | PMID:25741868 more ... | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia B | ClinVar | PMID:1349567 more ... | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia B | ClinVar | PMID:2498882 more ... | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia B | ClinVar | PMID:1908096 more ... | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia B | ClinVar | PMID:25741868 more ... | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia B | ClinVar | PMID:1924291 more ... | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia B | ClinVar | PMID:1301932 more ... | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia B | ClinVar | PMID:1924291 more ... | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia B | ClinVar | PMID:1908096 more ... | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease | ClinVar | PMID:1301932 more ... | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia B | ClinVar | PMID:1301932 more ... | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia B | ClinVar | PMID:23812942 more ... | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease | ClinVar | PMID:19473423 more ... | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia B | ClinVar | PMID:10338101 more ... | hemophilia B | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemophilia B | ClinVar | PMID:10519986 more ... | hemorrhagic disease | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Hemorrhagic diathesis | ClinVar | PMID:25741868, PMID:31064749 | microcephaly | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | Vision Disorders | | ISO | RGD:1343567 | 8554872 | ClinVar Annotator: match by term: Visual impairment | ClinVar | PMID:30311386 | |
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References
References - curated
| 1. | Akkarapatumwong V, etal., Hum Mutat. 2000 Jan;15(1):117-8. |
| 2. | Bank I, etal., J Thromb Haemost. 2005 Jan;3(1):79-84. |
| 3. | Booth CJ, etal., J Thromb Haemost. 2010 Nov;8(11):2472-7. doi: 10.1111/j.1538-7836.2010.03978.x. |
| 4. | Cangoz E, etal., Pediatr Hematol Oncol. 2004 Apr-May;21(3):255-60. |
| 5. | Ebbesen LS and Ingerslev J, J Nutr. 2005 Aug;135(8):1836-40. |
| 6. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 7. | Guillet B, etal., Hum Mutat. 2006 Jul;27(7):676-85. |
| 8. | Hellman L, etal., Br J Haematol. 1989 Nov;73(3):348-55. |
| 9. | Knobl P, etal., Thromb Haemost. 1994 Jun;71(6):692-7. |
| 10. | Kunicki TJ, etal., J Thromb Haemost. 2006 Jan;4(1):137-47. |
| 11. | MGD data from the GO Consortium |
| 12. | NCBI rat LocusLink and RefSeq merged data October 15, 2003 |
| 13. | Nielsen LN, etal., J Thromb Haemost. 2014 Aug;12(8):1274-82. doi: 10.1111/jth.12635. |
| 14. | Nobukata H, etal., Toxicol Lett. 1999 Jan 11;104(1-2):93-101. |
| 15. | Norris LA, Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):369-83. |
| 16. | OMIM Disease Annotation Pipeline |
| 17. | Pipeline to import KEGG annotations from KEGG into RGD |
| 18. | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 19. | RGD automated data pipeline |
| 20. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 21. | RGD automated import pipeline for gene-chemical interactions |
| 22. | Smith SA, etal., Crit Rev Biochem Mol Biol. 2015;50(4):326-36. doi: 10.3109/10409238.2015.1050550. Epub 2015 May 28. |
| 23. | VandenDriessche T, etal., Proc Natl Acad Sci U S A. 1999 Aug 31;96(18):10379-84. |
| 24. | Watzka M, etal., Thromb Haemost 2004 Jan;91(1):38-42. |
| 25. | Yamaguchi K, etal., Shock. 2000 Nov;14(5):535-43. |
| 26. | Zhang YJ, etal., Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2005 Feb;13(1):110-3. |
Genomics
