Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 GeneticVariation CLINVAR Inhibition of aldehyde reductase by acidic metabolites of the biogenic amines. 16

1975
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Secretion of alpha-immunoreactive inhibin by human pre-embryos cultured in vitro. 1522200

1992
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. 7704024

1995
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. 8521398

1995
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations. 8566964

1996
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR 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
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 GeneticVariation CLINVAR Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. 8574961

1996
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. 8574961

1996
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR 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
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. 8776590

1996
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome. 8880570

1996
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. 8797773

1996
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer. 9032648

1997
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Mutations in beta-catenin are uncommon in colorectal cancer occurring in occasional replication error-positive tumors. 9377556

1997
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes. 9298827

1997
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR 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
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. 8993976

1997
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR 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
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. 9697702

1998
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. 9718327

1998
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 GeneticVariation CLINVAR Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. 9697702

1998
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Microsatellite instability and mutation of DNA mismatch repair genes in gliomas. 9777949

1998
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 GeneticVariation CLINVAR Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer. 9833759

1998
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 GeneticVariation CLINVAR The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. 10037723

1999
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 GeneticVariation CLINVAR Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing. 10422993

1999