Annotation Detail
Information
- Associated Genes
- EPHX1
- Associated Variants
-
EPHX1 p.His139Arg (p.H139R)
(
ENST00000272167.10,
ENST00000366837.5,
ENST00000614058.4 )
EPHX1 p.His139Leu (p.H139L) ( ENST00000614058.4, ENST00000366837.5, ENST00000272167.10 )
EPHX1 p.His139Arg (p.H139R) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
EPHX1 p.His139Leu (p.H139L) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 ) - Associated Disease
- Chronic Obstructive Airway Disease
- Source Database
- DisGeNET
- Description
- In a case-control analysis of COPD susceptibility limited to cases with densitometric upper-lobe-predominant cases, the EPHX1 His139Arg single-nucleotide polymorphism was associated with COPD (p = 0.005).
- Pubmed
- 17363767
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.169736127983983
- Year of publication
- 2007
Drugs