Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation. 29790873

2018

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. 28135145

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation 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
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation 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
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR [Founder mutation in Lynch syndrome]. 27295708

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation 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
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation 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
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. 26895986

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation 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
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity. 24302565

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis. 25477341

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors. 25060679

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. 26300997

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. 26248088

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 Biomarker CTD_human Microsatellite instability: an update. 25701956

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome. 26437257

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. 26248088

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis. 25477341

2015