Annotation Detail
Information
- Associated Genes
- EPHX2
- Associated Variants
-
CYP2C9 p.Arg144Cys (p.R144C)
(
ENST00000461906.1,
ENST00000260682.8 )
CYP2C9 p.Ile359Leu (p.I359L) ( ENST00000260682.8 )
ALOX5AP c.241+2284A>T ( ENST00000617770.4, ENST00000380490.5 )
ALOX5AP c.412+182G>A ( ENST00000617770.4, ENST00000380490.5 )
ALOX5AP c.494+2385A>C ( ENST00000617770.4, ENST00000380490.5 )
ALOX5AP c.495-204A>G ( ENST00000380490.5, ENST00000617770.4 )
CYP3A5 c.219-237A>G ( ENST00000222982.8, ENST00000439761.3 )
EPHX2 p.Arg287Gln (p.R287Q) ( ENST00000380476.7, ENST00000517536.5, ENST00000518379.5, ENST00000521400.6, ENST00000521780.5 )
CYP2C9 p.Arg144Cys (p.R144C) ( ENST00000260682.8, ENST00000461906.1 )
CYP2C9 p.Ile359Leu (p.I359L) ( ENST00000260682.8 )
ALOX5AP c.241+2284A>T ( ENST00000380490.5, ENST00000617770.4 )
ALOX5AP c.412+182G>A ( ENST00000380490.5, ENST00000617770.4 )
ALOX5AP c.494+2385A>C ( ENST00000380490.5, ENST00000617770.4 )
ALOX5AP c.495-204A>G ( ENST00000380490.5, ENST00000617770.4 )
CYP3A5 c.219-237A>G ( ENST00000222982.8, ENST00000439761.3 )
EPHX2 p.Arg287Gln (p.R287Q) ( ENST00000380476.7, ENST00000517536.5, ENST00000518379.5, ENST00000521400.6, ENST00000521780.5 ) - Associated Disease
- Cerebrovascular accident
- Source Database
- DisGeNET
- Description
- Eight variants in five candidate genes were examined for the risk of stroke, including the SG13S32 (rs9551963), SG13S42 (rs4769060), SG13S89 (rs4769874), and SG13S114 (rs10507391) variants of the 5-lipoxygenase activating protein (ALOX5AP) gene, the G860A (rs751141) variant of the soluble epoxide hydrolase (EPHX2) gene, the A1075C (rs1057910) variant of the CYP2C9*2 gene, the C430T (rs1799853) variant of the CYP2C9*3 gene, and the A6986G (rs776746) variant of the CYP3A5 gene.
- Pubmed
- 24368493
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0909970900583793
- Year of publication
- 2014
Drugs