Annotation Detail
Information
- Associated Genes
- F7
- Associated Variants
-
F7 p.Arg375Gln (p.R375Q)
(
ENST00000375581.3,
ENST00000346342.8,
ENST00000541084.5 )
F7 p.Arg375Gln (p.R375Q) ( ENST00000346342.8, ENST00000375581.3, ENST00000541084.5 ) - Associated Disease
- Factor V Leiden mutation
- Source Database
- DisGeNET
- Description
- Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V 4070A>G (factor V HR2 haplotype), factor VII Arg353Gln, factor XIII Val34Leu, beta-fibrinogen -455G>A, prothrombin 20210G>A], coagulation inhibitors [tissue factor pathway inhibitor 536C>T, thrombomodulin 127G>A], fibrinolytic factors [angiotensin converting enzyme intron 16 insertion/deletion, factor VII-activating protease 1601G>A (FSAP Marburg I), plasminogen activator inhibitor 1-675 insertion/deletion (5G/4G), tissue plasminogen activator intron h deletion/insertion], and other factors implicated in influencing susceptibility to thromboembolic diseases [apolipoprotein E2/E3/E4, glycoprotein Ia 807C>T, methylenetetrahydrofolate reductase 677C>T] were included.
- Pubmed
- 17003923
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2006
Drugs