Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. 24278394 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Mismatch repair gene mutation analysis and colonoscopy surveillance in Chinese Lynch syndrome families. 23640085 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease CLINVAR Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. 24278394 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Influence of eight unclassified missense variants of the MLH1 gene on Lynch syndrome susceptibility. 21952876 2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075 2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR An American founder mutation in MLH1. 21671475 2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease UNIPROT Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075 2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome. 22776989 2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease CLINVAR Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075 2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Classification of mismatch repair gene missense variants with PON-MMR. 22290698 2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Comprehensive functional assessment of MLH1 variants of unknown significance. 22736432 2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. 23047549 2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease CLINVAR Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR. 21840485 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease CLINVAR Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease UNIPROT Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression. 20864636 2010
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Lynch syndrome among gynecologic oncology patients meeting Bethesda guidelines for screening. 20034658 2010
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease CLINVAR Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 20533529 2010