Annotation Detail
Information
- Associated Genes
- EPHX1
- Associated Variants
-
EPHX1 p.Tyr113His (p.Y113H)
(
ENST00000614058.4,
ENST00000272167.10,
ENST00000366837.5 )
EPHX1 p.Tyr113His (p.Y113H) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 ) - Associated Disease
- liver carcinoma
- Source Database
- DisGeNET
- Description
- Polymorphic forms of the human EPHX gene have been described that vary in enzymatic activity, and one, Tyr113His, has been associated with hepatocellular carcinoma susceptibility.
- Pubmed
- 8944076
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.135807098885704
- Year of publication
- 1996
Drugs