Annotation Detail

Information
Associated Genes
F7
Associated Variants
F7 p.Arg326Gln (p.R326Q) ( ENST00000375581.3, ENST00000346342.8, ENST00000541084.5 )
F7 p.Arg326Gln (p.R326Q) ( ENST00000346342.8, ENST00000375581.3, ENST00000541084.5 )
Associated Disease
Blood Coagulation Disorders
Source Database
DisGeNET
Description
Activated FVII levels in factor VII Padua (Arg304Gln) coagulation disorder and in true factor VII deficiency: a study in homozygotes and heterozygotes.
Pubmed
21902896
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0137775221276389
Year of publication
2011
Drugs