rs267607789, MLH1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. 26895986 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. 26895986 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Nucleosome positioning is unaltered at MLH1 splice site mutations in cells derived from Lynch syndrome patients. 25530820 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families. 20937110 2010
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families. 20937110 2010
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. 16395668 2006
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. 16395668 2006
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. 16395668 2006
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer. 17054581 2006
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). 15872200 2005
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 15849733 2005
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769 2005
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer. 15955785 2005
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 15849733 2005
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 12658575 2003
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. 11781295 2002
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. 11524701 2001
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. 11524701 2001
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. 11524701 2001
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility. 9490293 1998
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer. 8797773 1996
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Alternative splicing of MLH1 messenger RNA in human normal cells. 7728749 1995
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR