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 CausalMutation CLINVAR Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. 21868491

2012

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer. 12200596

2002

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR The frequency of Muir-Torre syndrome among Lynch syndrome families. 18270343

2008

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Genetic counseling in a Navajo hereditary nonpolyposis colorectal cancer kindred. 8630936

1996

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients. 21901500

2012

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 20533529

2010

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 Redundant DNA methylation in colorectal cancers of Lynch-syndrome patients. 18618713

2008

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. 18625694

2008

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer. 17054581

2006

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers. 12386821

2002

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia. 17889038

2008

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations. 17210669

2007

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases. 14504054

2003

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. 10037723

1999

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Ten novel MSH2 and MLH1 germline mutations in families with HNPCC. 15365996

2004

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing. 17569143

2007

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 Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein. 25077178

2014

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation 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
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases. 22691310

2012

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Impact of genetic counseling and DNA testing on individuals with colorectal cancer with a positive family history: a population-based study. 16379545

2005

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. 17473388

2007

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990

2011

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors. 12547705

2003