Annotation Detail

Information
Associated Genes
GSTP1
Associated Variants
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
POLR1G p.Pro40Ser (p.P40S) ( ENST00000309424.8, ENST00000589804.1 )
POLR1G p.Gln506Lys (p.Q506K) ( ENST00000300853.8, ENST00000423698.6, ENST00000309424.8, ENST00000589804.1 )
ERCC1 p.Asn118= (p.N118=) ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 )
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
POLR1G p.Pro40Ser (p.P40S) ( ENST00000309424.8, ENST00000589804.1 )
POLR1G p.Gln506Lys (p.Q506K) ( ENST00000300853.8, ENST00000423698.6, ENST00000309424.8, ENST00000589804.1 )
ERCC1 p.Asn118= (p.N118=) ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 )
Associated Disease
Colorectal cancer metastatic
Source Database
DisGeNET
Description
We retrospectively investigated pharmacogenomic characteristics of OXCPN in 70 Japanese patients with CRC who received oxaliplatin-based chemotherapy and updated the results of our previous analysis of ERCC1 (C118T, rs11615 and C8092A, rs3212986) and GSTP1 (Ile105Val, rs1695) polymorphisms.
Pubmed
23547850
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00318135759484294
Year of publication
2013
Drugs