Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Inherited DNA-Repair Defects in Colorectal Cancer. 29478780

2018

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560

2017

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: 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: 472
Gene Symbol: ATM
ATM
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560

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: 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: 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: 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: 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

Entrez Id: 64218
Gene Symbol: SEMA4A
SEMA4A
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 27476653

2016

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

Entrez Id: 4437
Gene Symbol: MSH3
MSH3
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 27476653

2016

Entrez Id: 580
Gene Symbol: BARD1
BARD1
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Expression of an Oncogenic BARD1 Splice Variant Impairs Homologous Recombination and Predicts Response to PARP-1 Inhibitor Therapy in Colon Cancer. 27197561

2016

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Homozygous inactivation of CHEK2 is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organs. 27900359

2016

Entrez Id: 999
Gene Symbol: CDH1
CDH1
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Loss of CDH1 (E-cadherin) expression is associated with infiltrative tumour growth and lymph node metastasis. 26742007

2016

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: 79728
Gene Symbol: PALB2
PALB2
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 27329137

2016

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: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458

2015

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: 22909
Gene Symbol: FAN1
FAN1
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair. 26052075

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: 79728
Gene Symbol: PALB2
PALB2
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015