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 CausalMutation CLINVAR 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
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation 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 CausalMutation CLINVAR Evaluation of the replication error phenotype in relation to molecular and clinicopathological features in hereditary and early onset colorectal cancer. 10448273

1999
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Mutator phenotypes conferred by MLH1 overexpression and by heterozygosity for mlh1 mutations. 10082584

1999
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1. 10495924

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

1999
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 GeneticVariation CLINVAR 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
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR 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
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Extensive molecular screening for hereditary non-polyposis colorectal cancer. 10732761

2000
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 GeneticVariation CLINVAR 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
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients. 10882759

2000
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 GeneticVariation CLINVAR Evaluation of enzymatic mutation detectiontrade mark in hereditary nonpolyposis colorectal cancer. 10874307

2000
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases. 10995807

2000
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR A polymorphism in the ATM gene modulates the penetrance of hereditary non-polyposis colorectal cancer. 11093816

2000
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR 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
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. 11555625

2001
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR CYCLIN D1 as a genetic modifier in hereditary nonpolyposis colorectal cancer. 11507050

2001
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Lack of MSH2 and MSH6 characterizes endometrial but not colon carcinomas in hereditary nonpolyposis colorectal cancer. 11306449

2001
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR The interaction of DNA mismatch repair proteins with human exonuclease I. 11427529

2001
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Bethesda guidelines: relation to microsatellite instability and MLH1 promoter methylation in patients with colorectal cancer. 11601928

2001
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer. 11606497

2001
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families. 11585727

2001
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Genotype and phenotype in hereditary nonpolyposis colon cancer: a study of families with different vs. shared predisposing mutations. 14574010

2001
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer. 11385712

2001
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes. 11429708

2001