Annotation Detail
Information
- Associated Genes
- ACE
- Associated Variants
-
F7 p.Arg375Gln (p.R375Q)
(
ENST00000375581.3,
ENST00000346342.8,
ENST00000541084.5 )
ENSG00000264813 p.Thr342Met (p.T342M), ACE p.Thr916Met (p.T916M) ( ENST00000290866.10, ENST00000428043.5, ENST00000413513.7, ENST00000290863.10 )
F7 p.Arg375Gln (p.R375Q) ( ENST00000346342.8, ENST00000375581.3, ENST00000541084.5 )
ENSG00000264813 p.Thr342Met (p.T342M), ACE p.Thr916Met (p.T916M) ( ENST00000290863.10, ENST00000290866.10, ENST00000413513.7, ENST00000428043.5 ) - Associated Disease
- Factor V Leiden mutation
- Source Database
- DisGeNET
- Description
- Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), factor V HR2 (FVHR2), factor II 20210G > A (FII), factor VII IVS7 (FVII IVS7), factor VII Arg353Gln (FVII), factor XIII Va134Leu (FXIII), Methylenetetrahydrofolate reductase C677T (MTHFR), Angiotensin Converting Enzyme (ACE)) and environmental risk factors were analyzed in a MI patients of Costa Rica.
- Pubmed
- 18457169
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00453856695524446
- Year of publication
- 2006
Drugs