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 Cancer
0.300 Biomarker CLINGEN

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

2015

Entrez Id: 27030
Gene Symbol: MLH3
MLH3
Hereditary Nonpolyposis Colorectal Cancer
0.700 Biomarker CLINGEN MLH3 has been assumed to be less important in MMR than the other HNPCC susceptibility genes MSH2, MSH6, MLH1, and PMS2, and accordingly a low-risk gene for colorectal cancer (CRC). 18521850

2008

Entrez Id: 22909
Gene Symbol: FAN1
FAN1
Hereditary Nonpolyposis Colorectal Cancer
0.500 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 Cancer
0.340 Biomarker CLINGEN A pathology atlas of the human cancer transcriptome. 28818916

2017

Entrez Id: 580
Gene Symbol: BARD1
BARD1
Hereditary Nonpolyposis Colorectal Cancer
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 Cancer
0.330 Biomarker CLINGEN Alterations of Chk1 and Chk2 expression in colon cancer. 18679694

2008

Entrez Id: 9156
Gene Symbol: EXO1
EXO1
Hereditary Nonpolyposis Colorectal Cancer
0.350 Biomarker CLINGEN Because of functional similarity to Fen1, and because Exo1 is involved in DNA mismatch repair (MMR) by interaction with Msh2 and Mlh1, genes that cause hereditary nonpolyposis colorectal cancer (HNPCC), we investigated the possibility that Exo1 might also act as a modifier to Apc(1638N). 17452984

2007

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

2013

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

2017

Entrez Id: 472
Gene Symbol: ATM
ATM
Hereditary Nonpolyposis Colorectal Cancer
0.330 Biomarker CLINGEN Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. 28135145

2017

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

2010

Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
Hereditary Nonpolyposis Colorectal Cancer
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 Cancer
0.700 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 Cancer
0.700 Biomarker CLINGEN Contributions by both MLH1/MLH3 and MLH1/PMS2 complexes to mechanisms of mismatch repair-mediated tumor suppression, therefore, provide an explanation why, among MutL homologues, only germ line mutations in MLH1 are common in hereditary non-polyposis colon cancer. 16204034

2005

Entrez Id: 22909
Gene Symbol: FAN1
FAN1
Hereditary Nonpolyposis Colorectal Cancer
0.500 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 Cancer
0.800 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 Cancer
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 Cancer
0.330 Biomarker CLINGEN DNA damage during reoxygenation elicits a Chk2-dependent checkpoint response. 16478982

2006

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
Hereditary Nonpolyposis Colorectal Cancer
0.330 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 Cancer
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 Cancer
0.330 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 Cancer
0.320 Biomarker CLINGEN E-cadherin germline mutations in familial gastric cancer. 9537325

1998

Entrez Id: 9156
Gene Symbol: EXO1
EXO1
Hereditary Nonpolyposis Colorectal Cancer
0.350 Biomarker CLINGEN Evidence made available in this study sheds light on the pathogenesis of HNPCC, perhaps initiated by an additional MMR gene, hEXO1. 12414623

2002

Entrez Id: 27030
Gene Symbol: MLH3
MLH3
Hereditary Nonpolyposis Colorectal Cancer
0.700 Biomarker CLINGEN Evidence that hMLH3 functions primarily in meiosis and in hMSH2-hMSH3 mismatch repair. 19483466

2009