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: 22909
Gene Symbol: FAN1
FAN1
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair. 20603073

2010

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN A pathology atlas of the human cancer transcriptome. 28818916

2017

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

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Alterations of Chk1 and Chk2 expression in colon cancer. 18679694

2008

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: 4437
Gene Symbol: MSH3
MSH3
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Association of low-risk MSH3 and MSH2 variant alleles with Lynch syndrome: probability of synergistic effects. 21128252

2011

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

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: 472
Gene Symbol: ATM
ATM
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. 28135145

2017

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. 28135145

2017

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN CHEK2 1100delC is a susceptibility allele for HNPCC-related colorectal cancer. 18676774

2008

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN CHEK2 mutations and HNPCC-related colorectal cancer. 19876921

2010

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: 27030
Gene Symbol: MLH3
MLH3
Hereditary Nonpolyposis Colorectal Neoplasms
0.500 Biomarker CLINGEN Conditional nuclear localization of hMLH3 suggests a minor activity in mismatch repair and supports its role as a low-risk gene in HNPCC. 17203173

2007

Entrez Id: 27030
Gene Symbol: MLH3
MLH3
Hereditary Nonpolyposis Colorectal Neoplasms
0.500 Biomarker CLINGEN Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse. 16204034

2005

Entrez Id: 22909
Gene Symbol: FAN1
FAN1
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Deficiency of FANCD2-associated nuclease KIAA1018/FAN1 sensitizes cells to interstrand crosslinking agents. 20603016

2010

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: 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: 11200
Gene Symbol: CHEK2
CHEK2
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN DNA damage during reoxygenation elicits a Chk2-dependent checkpoint response. 16478982

2006

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN DNA damage response as a candidate anti-cancer barrier in early human tumorigenesis. 15829956

2005

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: 472
Gene Symbol: ATM
ATM
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Downregulated Ku70 and ATM associated to poor prognosis in colorectal cancer among Chinese patients. 25368522

2014

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

2006