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
Cardiovascular Diseases
Source Database
DisGeNET
Description
Associations between the EPHX2 Lys55Arg and Arg287Gln polymorphisms and cardiovascular disease risk have been reported; however, their impact on vascular function in humans has not been investigated.
Pubmed
21098312
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0054387689632702
Year of publication
2011
Drugs