Annotation Detail

Information
Associated Genes
MLH1
Associated Variants
MLH1 c.-93G>A ( ENST00000536378.5, ENST00000673673.2 )
MLH1 c.-93G>A ( ENST00000536378.5, ENST00000673673.2 )
Associated Disease
colorectal cancer
Source Database
DisGeNET
Description
We previously identified an association between a mismatch repair gene, MLH1, promoter SNP (rs1800734) and microsatellite unstable (MSI-H) colorectal cancers (CRCs) in two samples.
Pubmed
20967208
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.16
Year of publication
2010
Drugs