Annotation Detail

Information
Associated Genes
F5
Associated Variants
ENSG00000264813 p.Thr342Met (p.T342M), ACE p.Thr916Met (p.T916M) ( ENST00000290866.10, ENST00000428043.5, ENST00000413513.7, ENST00000290863.10 )
ENSG00000264813 p.Thr342Met (p.T342M), ACE p.Thr916Met (p.T916M) ( ENST00000290863.10, ENST00000290866.10, ENST00000413513.7, ENST00000428043.5 )
Associated Disease
Ischemic stroke
Source Database
DisGeNET
Description
The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), prothrombin G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T gene mutations, and angiotensin-converting enzyme (ACE) I/D polymorphism in ischemic stroke (IS) patients.
Pubmed
18387982
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0228123869080612
Year of publication
2009
Drugs