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 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 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 Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16. 8571956

1996

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

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. 8872463

1996

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 Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria. 9048925

1997

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Mutational analysis of the hMLH1 gene using an automated two-dimensional DNA typing system. 9067757

1997

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes. 9218993

1997

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue. 9272156

1997

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes. 9298827

1997

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations. 9311737

1997

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 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 mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer. 9559627

1998

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. 9718327

1998

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 Neurofibromatosis and early onset of cancers in hMLH1-deficient children. 9927034

1999

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer. 10323887

1999

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. 10375096

1999

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Novel hMLH1 and hMSH2 germline mutations in African Americans with colorectal cancer. 10386556

1999

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 Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. 10480359

1999

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710 GeneticVariation UNIPROT Missense mutations in hMLH1 associated with colorectal cancer. 10598809

1999

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