Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1495
Gene Symbol: CTNNA1
CTNNA1
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN

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 Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. 8072530

1994

Entrez Id: 2052
Gene Symbol: EPHX1
EPHX1
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Human microsomal epoxide hydrolase: genetic polymorphism and functional expression in vitro of amino acid variants. 7516776

1994

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: 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: 4437
Gene Symbol: MSH3
MSH3
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN hMutSbeta, a heterodimer of hMSH2 and hMSH3, binds to insertion/deletion loops in DNA. 8805365

1996

Entrez Id: 4437
Gene Symbol: MSH3
MSH3
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. 8942985

1996

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: 1027
Gene Symbol: CDKN1B
CDKN1B
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Down-regulation of p27 is associated with development of colorectal adenocarcinoma metastases. 9736017

1998

Entrez Id: 999
Gene Symbol: CDH1
CDH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN E-cadherin germline mutations in familial gastric cancer. 9537325

1998

Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN The murine gene p27Kip1 is haplo-insufficient for tumour suppression. 9823898

1998

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: 999
Gene Symbol: CDH1
CDH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Mutated epithelial cadherin is associated with increased tumorigenicity and loss of adhesion and of responsiveness to the motogenic trefoil factor 2 in colon carcinoma cells. 10051639

1999

Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Comparative effects of overexpression of p27Kip1 and p21Cip1/Waf1 on growth and differentiation in human colon carcinoma cells. 9926925

1999

Entrez Id: 999
Gene Symbol: CDH1
CDH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. 10072428

1999

Entrez Id: 9156
Gene Symbol: EXO1
EXO1
Hereditary Nonpolyposis Colorectal Neoplasms
0.310 Biomarker CLINGEN Identification of factors interacting with hMSH2 in the fetal liver utilizing the yeast two-hybrid system. In vivo interaction through the C-terminal domains of hEXO1 and hMSH2 and comparative expression analysis. 10856833

2000

Entrez Id: 4437
Gene Symbol: MSH3
MSH3
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN The DNA mismatch repair genes Msh3 and Msh6 cooperate in intestinal tumor suppression. 10706084

2000

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: 9156
Gene Symbol: EXO1
EXO1
Hereditary Nonpolyposis Colorectal Neoplasms
0.310 Biomarker CLINGEN HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes. 11429708

2001

Entrez Id: 2052
Gene Symbol: EPHX1
EPHX1
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Distribution of microsomal epoxide hydrolase in humans: an immunohistochemical study in normal tissues, and benign and malignant tumours. 11758809

2001

Entrez Id: 580
Gene Symbol: BARD1
BARD1
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Adenosine nucleotide modulates the physical interaction between hMSH2 and BRCA1. 11498787

2001