Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2052
Gene Symbol: EPHX1
EPHX1
Hereditary Nonpolyposis Colorectal Cancer
0.300 Biomarker CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500

2015

Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
Hereditary Nonpolyposis Colorectal Cancer
0.300 Biomarker CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500

2015

Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
Hereditary Nonpolyposis Colorectal Cancer
0.300 Biomarker CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500

2015

Entrez Id: 64332
Gene Symbol: NFKBIZ
NFKBIZ
Hereditary Nonpolyposis Colorectal Cancer
0.300 Biomarker CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500

2015

Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
Hereditary Nonpolyposis Colorectal Cancer
0.300 Biomarker CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500

2015

Entrez Id: 580
Gene Symbol: BARD1
BARD1
Hereditary Nonpolyposis Colorectal Cancer
0.300 Biomarker CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500

2015

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
0.800 Biomarker CLINGEN We performed PMS2 mutation analysis using long-range polymerase chain reaction and multiplex ligation-dependent probe amplification for 99 probands diagnosed with Lynch syndrome-associated tumors showing isolated loss of PMS2 by immunohistochemistry. 18602922

2008

Entrez Id: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Cancer
0.800 Biomarker CLINGEN We conclude that PMS2 mutation detection in selected Lynch syndrome and Lynch syndrome-like patients is both feasible and desirable. 16619239

2006

Entrez Id: 6224
Gene Symbol: RPS20
RPS20
Hereditary Nonpolyposis Colorectal Cancer
0.300 Biomarker CLINGEN Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review. 27713038

2017

Entrez Id: 22909
Gene Symbol: FAN1
FAN1
Hereditary Nonpolyposis Colorectal Cancer
0.500 Biomarker CLINGEN Ubiquitinated Fancd2 recruits Fan1 to stalled replication forks to prevent genome instability. 26797144

2016

Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
Hereditary Nonpolyposis Colorectal Cancer
0.300 Biomarker CLINGEN Tumorigenesis in p27/p53- and p18/p53-double null mice: functional collaboration between the pRb and p53 pathways. 15584024

2005

Entrez Id: 5795
Gene Symbol: PTPRJ
PTPRJ
Hereditary Nonpolyposis Colorectal Cancer
0.300 Biomarker CLINGEN Tumor Suppressor PTPRJ Is a Target of miR-155 in Colorectal Cancer. 28316102

2017

Entrez Id: 4437
Gene Symbol: MSH3
MSH3
Hereditary Nonpolyposis Colorectal Cancer
0.390 Biomarker CLINGEN To determine a possible role of MSH3 as predisposing to CRC in Lynch syndrome, we screened MSH3 for germ-line mutations in 79 unrelated Lynch patients who were negative for pathogenetic mutations in MLH1, MSH2 and MSH6. 21128252

2011

Entrez Id: 4437
Gene Symbol: MSH3
MSH3
Hereditary Nonpolyposis Colorectal Cancer
0.390 Biomarker CLINGEN Tissue-specific mismatch repair protein expression: MSH3 is higher than MSH6 in multiple mouse tissues. 23228367

2013

Entrez Id: 9156
Gene Symbol: EXO1
EXO1
Hereditary Nonpolyposis Colorectal Cancer
0.350 Biomarker CLINGEN Thus, little evidence was obtained to support a major causative role of EXO1 in HNPCC, although we cannot exclude a role for EXO1 as a low penetrance cancer susceptibility or modifying gene. 12517792

2003

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Cancer
0.800 Biomarker CLINGEN This may explain the rarity of MSH6 and absence of MSH3 germline mutations in HNPCC families. 10545954

1999

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

1998

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
Hereditary Nonpolyposis Colorectal Cancer
0.340 Biomarker CLINGEN The Genotype-Tissue Expression (GTEx) project. 23715323

2013

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

2000

Entrez Id: 472
Gene Symbol: ATM
ATM
Hereditary Nonpolyposis Colorectal Cancer
0.330 Biomarker CLINGEN The depletion of ATM inhibits colon cancer proliferation and migration via B56γ2-mediated Chk1/p53/CD44 cascades. 28093285

2017

Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
Hereditary Nonpolyposis Colorectal Cancer
0.300 Biomarker CLINGEN The chromatin-remodeling enzyme BRG1 promotes colon cancer progression via positive regulation of WNT3A. 27852072

2016

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
Hereditary Nonpolyposis Colorectal Cancer
0.330 Biomarker CLINGEN The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population. 18996005

2009

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
Hereditary Nonpolyposis Colorectal Cancer
0.330 Biomarker CLINGEN The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. 12690581

2003

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

1996

Entrez Id: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Cancer
0.800 Biomarker CLINGEN Six of the families that we studied fulfilled the original Amsterdam criteria; most families with MSH6, however, were only suspected to have HNPCC. 11709755

2002