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
0.900 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 GeneticVariation CLINVAR Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 GeneticVariation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 GeneticVariation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2017

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

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation CLINVAR Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome. 25782445

2016

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

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 Biomarker CLINGEN Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 27329137

2016

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

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation CLINVAR Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases. 25892863

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 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
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 Biomarker CTD_human Microsatellite instability: an update. 25701956

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation CLINVAR Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. 24278394

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 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
0.900 CausalMutation CLINVAR Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome. 25197397

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation 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

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 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
0.900 GeneticVariation CLINVAR Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. 26247049

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 CausalMutation 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
0.900 CausalMutation 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
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 GeneticVariation 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