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 Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease CLINVAR Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. 28135145 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 Biomarker disease CLINGEN Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 27329137 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease CLINVAR Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome. 26888055 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease CLINVAR Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease CLINVAR Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. 26248088 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. 26248088 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases. 25892863 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Genetic features of Lynch syndrome in the Israeli population. 25430799 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression. 25871621 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome. 26053027 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. 24440087 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns. 24802709 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing. 24323032 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease CLINVAR The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype. 24084575 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 Biomarker disease CTD_human Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein. 25077178 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 CausalMutation disease CLINVAR Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers. 23760103 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease CLINVAR Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry. 22878509 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.710 GeneticVariation disease CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387 2013