Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.700 Biomarker disease CLINGEN Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 27329137 2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.700 Biomarker disease CTD_human Germ line hemiallelic methylations of MLH1 or MSH2 are termed as epimutations and have been identified as causative of Lynch syndrome. 25701956 2015
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.700 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.700 Biomarker disease CLINGEN Cancer risks for MLH1 and MSH2 mutation carriers. 23255516 2013
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.700 Biomarker disease 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
0.700 Biomarker disease 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
0.700 Biomarker disease CTD_human Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. 14756672 2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.700 Biomarker disease CTD_human The role of hMLH3 in familial colorectal cancer. 12702580 2003
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.700 Biomarker disease CLINGEN Spontaneous intestinal carcinomas and skin neoplasms in Msh2-deficient mice. 8706033 1996
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.700 Biomarker disease CLINGEN Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. 8261515 1993