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 Neoplasms
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 Neoplasms
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 Neoplasms
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 Neoplasms
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 Neoplasms
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 Neoplasms
0.300 Biomarker CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500

2015

Entrez Id: 6224
Gene Symbol: RPS20
RPS20
Hereditary Nonpolyposis Colorectal Neoplasms
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 Neoplasms
0.300 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 Neoplasms
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 Neoplasms
0.300 Biomarker CLINGEN Tumor Suppressor PTPRJ Is a Target of miR-155 in Colorectal Cancer. 28316102

2017

Entrez Id: 9156
Gene Symbol: EXO1
EXO1
Hereditary Nonpolyposis Colorectal Neoplasms
0.310 Biomarker CLINGEN Tumor progression in Apc(1638N) mice with Exo1 and Fen1 deficiencies. 17452984

2007

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

2013

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: 79728
Gene Symbol: PALB2
PALB2
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN The Genotype-Tissue Expression (GTEx) project. 23715323

2013

Entrez Id: 27030
Gene Symbol: MLH3
MLH3
Hereditary Nonpolyposis Colorectal Neoplasms
0.500 Biomarker CLINGEN The first functional study of MLH3 mutations found in cancer patients. 18521850

2008

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

2017

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: 6597
Gene Symbol: SMARCA4
SMARCA4
Hereditary Nonpolyposis Colorectal Neoplasms
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 Neoplasms
0.300 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 Neoplasms
0.300 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 Neoplasms
0.900 Biomarker CLINGEN Spontaneous intestinal carcinomas and skin neoplasms in Msh2-deficient mice. 8706033

1996

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: 999
Gene Symbol: CDH1
CDH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. 11968083

2002

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