Annotation Detail

Information
Associated Genes
F9
Associated Variants
F5 p.Gln534= (p.Q534=) ( ENST00000367796.3, ENST00000367797.9 )
F5 p.Arg534Gln (p.R534Q) ( ENST00000367796.3, ENST00000367797.9 )
Associated Disease
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
Source Database
DisGeNET
Description
Furthermore, high levels of factor IX and low levels of free protein S were associated with increased risk for PE, whereas aPC resistance and F5 rs6025 were risk factors for DVT and not PE.
Pubmed
23015030
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2012
Drugs