Gene: MLH1 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.800 CausalMutation disease CLINVAR Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075 2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.800 CausalMutation disease CLINVAR A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. 20020535 2010
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.800 CausalMutation disease CLINVAR The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation. 18205192 2008