MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Hereditary Non-Polyposis Colon Cancer Type 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 GeneticVariation 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
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 GeneticVariation CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387 2013
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 GeneticVariation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630 2013
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075 2012
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 GeneticVariation CLINVAR Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075 2012
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 GeneticVariation CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117 2011
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 GeneticVariation CLINVAR Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944 2011
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. 20020535 2010
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 GeneticVariation CLINVAR Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 20533529 2010
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 GeneticVariation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385 2007
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 GeneticVariation CLINVAR Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. 17594722 2007
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 GeneticVariation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711 2005
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. 15365995 2004
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing. 11839723 2002
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. 11781295 2002
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. 11793442 2002
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms? 11726306 2001
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain. 11748856 2001
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 GeneticVariation CLINVAR Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms? 11726306 2001
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. 10375096 1999
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Missense mutations in hMLH1 associated with colorectal cancer. 10598809 1999
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer. 10413423 1999
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer. 9833759 1998
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer. 9559627 1998
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. Online. 10627141 1998