Annotation Detail

Information
Associated Genes
GSTP1
Associated Variants
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
GSTP1 c.[313A>G;341C>T]
NQO1 p.Pro187Ser (p.P187S) ( ENST00000439109.6, ENST00000379046.6, ENST00000379047.7, ENST00000564043.1, ENST00000320623.10, ENST00000561500.5 )
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
GSTP1 c.[313A>G;341C>T]
NQO1 p.Pro187Ser (p.P187S) ( ENST00000320623.10, ENST00000379046.6, ENST00000379047.7, ENST00000439109.6, ENST00000561500.5, ENST00000564043.1 )
Associated Disease
Adenoma of large intestine
Source Database
DisGeNET
Description
Although with modest limitations and biases, this metaanalysis suggests that EPHX1 Tyr113His and His139Arg, GSTT1, GSTM1, GSTP1 Ile105Val and Ala114Val polymorphisms may be not risk factors for CRA development, while Ser allele of NQO1 Ser187 Pro may be a modest risk factor for CRA development, and may be used with other genetic markers for screening CRA in the future.
Pubmed
22161138
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Year of publication
2012
Drugs