Annotation Detail
Information
- Associated Genes
- EPHX2
- Associated Variants
-
EPHX2 p.Lys55Arg (p.K55R)
(
ENST00000380476.7,
ENST00000517536.5,
ENST00000518379.5,
ENST00000521400.6,
ENST00000521780.5 )
EPHX2 p.Arg287Gln (p.R287Q) ( ENST00000380476.7, ENST00000517536.5, ENST00000518379.5, ENST00000521400.6, ENST00000521780.5 )
EPHX2 p.Lys55Arg (p.K55R) ( ENST00000380476.7, ENST00000517536.5, ENST00000518379.5, ENST00000521400.6, ENST00000521780.5 )
EPHX2 p.Arg287Gln (p.R287Q) ( ENST00000380476.7, ENST00000517536.5, ENST00000518379.5, ENST00000521400.6, ENST00000521780.5 ) - Associated Disease
- Coronary Arteriosclerosis
- Source Database
- DisGeNET
- Description
- There are several functional polymorphisms in the EPHX2 gene: two of them, the K55R and R287Q, showing an altered metabolic activity in vitro, were associated with coronary heart disease and ischemic stroke in previous studies.
- Pubmed
- 20065888
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.007915421552047
- Year of publication
- 2010
Drugs