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 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeast. 19863800 2009
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 CausalMutation disease CLINVAR Association of hereditary hemorrhagic telangiectasia and hereditary nonpolyposis colorectal cancer in the same kindred. 15849752 2005
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease 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 		0.900 CausalMutation disease CLINVAR Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 17440981 2007
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 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 Cancer risk in 348 French MSH2 or MLH1 gene carriers. 12624141 2003
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 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 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 Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases. 10995807 2000
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. 8993976 1997
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Classification of mismatch repair gene missense variants with PON-MMR. 22290698 2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation 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 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 CausalMutation disease CLINVAR Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families. 16810763 2006
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. 15996210 2005
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome. 26437257 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome. 25782445 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Clinical features and hMSH2/hMLH1 germ-line mutations in Chinese patients with hereditary nonpolyposis colorectal cancer. 18713544 2008
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Clinicopathological and molecular genetic analysis of HNPCC in China. 15786548 2005
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 CausalMutation disease CLINVAR Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2. 19669161 2010