Annotation Detail

Information
Associated Genes
EPHX1
Associated Variants
EPHX1 p.Tyr113His (p.Y113H) ( ENST00000614058.4, ENST00000272167.10, ENST00000366837.5 )
EPHX1 p.His139Arg (p.H139R) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
EPHX1 p.His139Leu (p.H139L) ( ENST00000614058.4, ENST00000366837.5, ENST00000272167.10 )
EPHX1 p.Tyr113His (p.Y113H) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
EPHX1 p.His139Arg (p.H139R) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
EPHX1 p.His139Leu (p.H139L) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
Associated Disease
esophageal carcinoma
Source Database
DisGeNET
Description
EPHX1 Tyr113His and His139Arg polymorphisms in esophageal cancer risk: a meta-analysis.
Pubmed
24615030
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00426712508316415
Year of publication
2014
Drugs