Annotation Detail

Information
Associated Genes
CYP2C9
Associated Variants
CYP2C8 p.Lys399Arg (p.K399R) ( ENST00000623108.3, ENST00000371270.6, ENST00000535898.5 )
CYP2C8 p.Arg139Lys (p.R139K) ( ENST00000535898.5, ENST00000628935.1, ENST00000623108.3, ENST00000371270.6 )
CYP2C8 p.Lys399Arg (p.K399R) ( ENST00000371270.6, ENST00000535898.5, ENST00000623108.3 )
CYP2C8 p.Arg139Lys (p.R139K) ( ENST00000371270.6, ENST00000535898.5, ENST00000623108.3, ENST00000628935.1 )
Associated Disease
Peptic Ulcer
Source Database
DisGeNET
Description
We investigated whether eight functional SNPs in the CYP2C family of genes--CYP2C8*3 (rs11572080 and rs10509681), CYP2C8*4, CYP2C9*2, CYP2C9*3, CYP2C19*2, CYP2C19*3, and CYP2C19*17--are associated with PUD in 1,239 Caucasian patients.
Pubmed
23267857
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00527694770136467
Year of publication
2013
Drugs