Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 Biomarker group CLINGEN Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 27329137 2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 Biomarker group CTD_human Microsatellite instability: an update. 25701956 2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 Biomarker group CLINGEN Cancer risks for MLH1 and MSH2 mutation carriers. 23255516 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 Biomarker group CTD_human A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614 2012
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 Biomarker group CLINGEN Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. 17101317 2006
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 Biomarker group CTD_human Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. 14756672 2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 Biomarker group CTD_human The role of hMLH3 in familial colorectal cancer. 12702580 2003
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 Biomarker group CLINGEN Spontaneous intestinal carcinomas and skin neoplasms in Msh2-deficient mice. 8706033 1996
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.900 Biomarker group CLINGEN Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. 8261515 1993
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 Biomarker group CTD_human Microsatellite instability: an update. 25701956 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 Biomarker group CTD_human A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614 2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 Biomarker group CTD_human A CRM1-dependent nuclear export pathway is involved in the regulation of MutLα subcellular localization. 21064154 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 Biomarker group CTD_human A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. 20020535 2010
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.700 Biomarker group CTD_human Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. 14756672 2004
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.640 Biomarker group CTD_human Microsatellite instability: an update. 25701956 2015
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
0.640 Biomarker group CTD_human Microsatellite instability: an update. 25701956 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.640 Biomarker group CLINGEN Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.640 Biomarker group CLINGEN Deficient expression of DNA repair enzymes in early progression to sporadic colon cancer. 22494821 2012
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
0.640 Biomarker group CTD_human A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614 2012
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.640 Biomarker group CLINGEN PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance. 20624957 2010
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
0.640 Biomarker group CLINGEN Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding. 18790734 2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.640 Biomarker group CLINGEN The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
0.640 Biomarker group CTD_human Lack of DNA mismatch repair protein MSH6 in the rat results in hereditary non-polyposis colorectal cancer-like tumorigenesis. 18417481 2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.640 Biomarker group CLINGEN Endonucleolytic function of MutLalpha in human mismatch repair. 16873062 2006
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.640 Biomarker group CLINGEN Long-range PCR facilitates the identification of PMS2-specific mutations. 16619239 2006