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 Cancer risks for MLH1 and MSH2 mutation carriers. 23255516 2013
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: 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 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 CLINGEN Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 27329137 2016
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 Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. 9354786 1997
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 Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. 11793442 2002
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
0.640 Biomarker group CLINGEN HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions. 10545954 1999
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: 5395
Gene Symbol: PMS2
PMS2
0.640 Biomarker group CLINGEN Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). 15872200 2005
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
0.640 Biomarker group CLINGEN GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. 7604265 1995
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 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 CLINGEN Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells. 7604264 1995
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.640 Biomarker group CLINGEN Long-range PCR facilitates the identification of PMS2-specific mutations. 16619239 2006
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.640 Biomarker group CLINGEN Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. 8072530 1994
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: 2956
Gene Symbol: MSH6
MSH6
0.640 Biomarker group CLINGEN Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. 9390556 1997
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
0.640 Biomarker group CLINGEN Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. 11709755 2002
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
0.640 Biomarker group CLINGEN Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. 15887124 2005
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
0.640 Biomarker group CLINGEN Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. 10521294 1999
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
0.640 Biomarker group CLINGEN MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. 11245474 2001
Entrez Id: 27030
Gene Symbol: MLH3
MLH3
0.500 Biomarker group CLINGEN Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome. 19156873 2009