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 CausalMutation disease 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 		0.900 CausalMutation disease CLINVAR DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer. 28640387 2017
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 CausalMutation disease CLINVAR Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 27629256 2017
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 CausalMutation disease CLINVAR Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer. 17054581 2006
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements. 16941473 2006
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 CausalMutation disease CLINVAR Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer. 16034045 2005
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630 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 CausalMutation disease CLINVAR Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR. 15613555 2004
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. 14871975 2004
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations. 12810663 2003
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Lynch syndrome in Tunisia: first description of clinical features and germline mutations. 21311894 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals. 21681552 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR CYCLIN D1 as a genetic modifier in hereditary nonpolyposis colorectal cancer. 11507050 2001
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 CausalMutation disease CLINVAR Extensive molecular screening for hereditary non-polyposis colorectal cancer. 10732761 2000
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Mismatch repair gene mutations in Chinese HNPCC patients. 18931482 2008
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR An intronic mutation in MLH1 associated with familial colon and breast cancer. 20717847 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. 9697702 1998