Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 9156
Gene Symbol: EXO1
EXO1
Hereditary Nonpolyposis Colorectal Neoplasms
0.310 Biomarker CLINGEN Molecular characteristics of mismatch repair genes in sporadic colorectal tumors in Czech patients. 24484585

2014

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Increased microtubule assembly rates influence chromosomal instability in colorectal cancer cells. 24976383

2014

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: 472
Gene Symbol: ATM
ATM
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas. 24512911

2014

Entrez Id: 64218
Gene Symbol: SEMA4A
SEMA4A
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X. 25307848

2014

Entrez Id: 6224
Gene Symbol: RPS20
RPS20
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. 24941021

2014

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

2013

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: 580
Gene Symbol: BARD1
BARD1
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Expression of oncogenic BARD1 isoforms affects colon cancer progression and correlates with clinical outcome. 22814582

2012

Entrez Id: 472
Gene Symbol: ATM
ATM
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Loss of expression of the double strand break repair protein ATM is associated with worse prognosis in colorectal cancer and loss of Ku70 expression is associated with CIN. 23154512

2012

Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
Hereditary Nonpolyposis Colorectal Neoplasms
0.300 Biomarker CLINGEN Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility. 21807500

2011

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: 5395
Gene Symbol: PMS2
PMS2
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance. 20624957

2010

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

2010

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

2009

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: 2956
Gene Symbol: MSH6
MSH6
Hereditary Nonpolyposis Colorectal Neoplasms
0.640 Biomarker CLINGEN Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding. 18790734

2008