Gene: MLH1 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Inhibition of aldehyde reductase by acidic metabolites of the biogenic amines. 16 1975
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. 16395668 2006
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 15849733 2005
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Mutation analysis of hMSH2 and hMLH1 in colorectal cancer patients in India. 15345113 2004
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR 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 		0.900 GeneticVariation disease CLINVAR hMRE11 deficiency leads to microsatellite instability and defective DNA mismatch repair. 15864295 2005
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain. 11920650 2002
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred. 12919137 2003
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711 2005
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha. 11948175 2002
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. 9697702 1998
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. 19267393 2009
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. 10037723 1999
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease 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 		0.900 GeneticVariation disease CLINVAR Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. 19419416 2009
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312 2008
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. 17453009 2007
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions. 20176959 2010
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. 15365995 2004
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis. 19731080 2010
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Human mismatch-repair protein MutL homologue 1 (MLH1) interacts with Escherichia coli MutL and MutS in vivo and in vitro: a simple genetic system to assay MLH1 function. 12513688 2003