Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. 20020535

2010

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT A human compound heterozygote for two MLH1 missense mutations. 9326924

1997

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205

2008

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. 8993976

1997

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations. 8566964

1996

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach. 10713887

2000

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain. 11748856

2001

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. 10777691

2000

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer. 9833759

1998

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. Online. 10627141

1998

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer. 10413423

1999

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. 11781295

2002

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. 11793442

2002

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075

2012

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711

2005

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. 14635101

2003

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. 12373605

2002

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC) 7757073

1995

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Germline epimutation of MLH1 in individuals with multiple cancers. 15064764

2004

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families. 9399661

1997

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. 12362047

2002

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135

2006

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. 15365995

2004

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. 8797773

1996