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 Cancer
1.000 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 Cancer
1.000 Biomarker CLINGEN We examined 19 unclassified variants (UVs) detected in MSH2 or MLH1 genes in patients suspected of HNPCC for expression at RNA level. 16341550

2007

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
1.000 Biomarker CLINGEN Endonucleolytic function of MutLalpha in human mismatch repair. 16873062

2006

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
1.000 Biomarker CLINGEN We then examined the effects of hMLH1 missense alterations found in HNPCC kindreds for their interaction with hPMS2. 10037723

1999

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
1.000 Biomarker CLINGEN Interestingly, two HNPCC missense alterations (Q542L and L582V) contained within the consensus interaction region displayed no effect on interaction with hPMS2, suggesting that they may affect other functions of hMLH1. 10037723

1999

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
1.000 Biomarker CLINGEN These data confirm that functional deficiencies in the interaction of hMLH1 with hPMS2 are associated with HNPCC as well as suggest that other unknown functional alteration of the human MutL homologues may lead to tumorigenesis in HNPCC kindreds. 10037723

1999

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
1.000 Biomarker CLINGEN Germline mutations in two human mismatch repair (MMR) genes, hMSH2 and hMLH1, appear to account for approximately 70% of the common cancer susceptibility syndrome hereditary nonpolyposis colorectal cancer (HNPCC). 10037723

1999

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
1.000 Biomarker CLINGEN Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility. 9490293

1998

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
1.000 Biomarker CLINGEN Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair. 9500552

1998

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
1.000 Biomarker CLINGEN Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients. 8581513

1996

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
1.000 Biomarker CLINGEN Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs. 7892206

1995

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Nonpolyposis Colorectal Cancer
1.000 Biomarker CLINGEN Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. 8145827

1994