Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 Biomarker CLINGEN Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 27329137

2016

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 Biomarker CLINGEN Cancer risks for MLH1 and MSH2 mutation carriers. 23255516

2013

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 Biomarker 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
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 Biomarker CLINGEN Spontaneous intestinal carcinomas and skin neoplasms in Msh2-deficient mice. 8706033

1996

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Hereditary Nonpolyposis Colorectal Neoplasms
0.900 Biomarker CLINGEN Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. 8261515

1993

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458

2015

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN Deficient expression of DNA repair enzymes in early progression to sporadic colon cancer. 22494821

2012

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance. 20624957

2010

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding. 18790734

2008

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922

2008

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN Endonucleolytic function of MutLalpha in human mismatch repair. 16873062

2006

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN Long-range PCR facilitates the identification of PMS2-specific mutations. 16619239

2006

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). 15872200

2005

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. 15887124

2005

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. 11793442

2002

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. 11709755

2002

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. 11245474

2001

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions. 10545954

1999

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker 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
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. 9354786

1997

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. 9390556

1997

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. 7604265

1995

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells. 7604264

1995

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. 8072530

1994

Entrez Id: 27030
Gene Symbol: MLH3
MLH3
Hereditary Nonpolyposis Colorectal Neoplasms
0.500 Biomarker CLINGEN Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome. 19156873

2009