Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Clinical and Genetic Implications of DNA Mismatch Repair Deficiency in Biliary Tract Cancers Associated with Lynch Syndrome. 29238914

2018

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation. 29472279

2018

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines. 28127413

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. 28135145

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Pancreatic Cancer in Lynch Syndrome Patients. 29151953

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 27629256

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients. 28445943

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR New EPCAM founder deletion in Polish population. 28369810

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer. 27602174

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Systematic immunohistochemical screening for Lynch syndrome in colorectal cancer: a single centre experience of 486 patients. 27152634

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools. 26761715

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer. 27535758

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR [Founder mutation in Lynch syndrome]. 27295708

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools. 26761715

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Mismatch repair deficiency concordance between primary colorectal cancer and corresponding metastasis. 26666765

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016