Annotation Detail

Information
Associated Genes
MLH1
Associated Variants
MSH6 p.Gly39Glu (p.G39E) ( ENST00000540021.6, ENST00000234420.11, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2 )
MSH6 p.Gly39Ala (p.G39A) ( ENST00000234420.11, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2 )
MSH6 p.Gly39Glu (p.G39E) ( ENST00000234420.11, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2 )
MSH6 p.Gly39Ala (p.G39A) ( ENST00000234420.11, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2 )
Associated Disease
Malignant tumor of colon
Source Database
DisGeNET
Description
The MSH6 Gly39Glu and MLH1 -93G>A polymorphisms were associated with risk of overall colon and MSI-positive colon cancers, respectively.
Pubmed
18523027
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0236154428709864
Year of publication
2009
Drugs