| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | group | BEFREE | Combined deficiency of factor V (FV) and FVIII (F5F8D) is an autosomal recessive bleeding disorder characterized by simultaneous decreases of both coagulation factors. | 23852824 | 2013 | ||||
|
0.080 | AlteredExpression | group | BEFREE | F5F8D is characterized by concomitantly low levels (usually between 5% and 20%) of both FV and FVIII and is associated with a mild to moderate bleeding tendency. | 19598067 | 2009 | ||||
|
0.080 | Biomarker | group | BEFREE | Combined deficiency of coagulation factor V (FV) and factor VIII (FVIII) (F5F8D) is an inherited bleeding disorder characterized by a reduction in plasma concentrations of FV and FVIII. | 19787799 | 2009 | ||||
|
0.080 | AlteredExpression | group | BEFREE | F5F8D is characterized by concomitantly low levels (usually between 5% and 20%) of both FV and FVIII, and is associated with a mild to moderate bleeding tendency. | 19141160 | 2008 | ||||
|
0.080 | GeneticVariation | group | BEFREE | Combined deficiency of factors V and VIII (F5F8D) is a bleeding disorder caused by mutations in LMAN1 or MCFD2. | 18056485 | 2008 | ||||
|
0.080 | GeneticVariation | group | BEFREE | Combined deficiency of factors V (FV) and factor VIII (FVIII) (F5F8D) is an autosomal recessive bleeding disorder caused by simultaneous moderate-to-mild decrease of both clotting proteins. | 16044454 | 2005 | ||||
|
0.080 | GeneticVariation | group | BEFREE | Mutations in LMAN1 (also called ERGIC-53) result in combined deficiency of factor V and factor VIII (F5F8D), an autosomal recessive bleeding disorder characterized by coordinate reduction of both clotting proteins. | 12717434 | 2003 | ||||
|
0.080 | GeneticVariation | group | BEFREE | Mutations in a candidate gene in this region, ERGIC-53, were recently found to be associated with the coagulation defect in nine Jewish families. | 10090934 | 1999 |