Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27030
Gene Symbol: MLH3
MLH3
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.500 Biomarker CLINGEN The first functional study of MLH3 mutations found in cancer patients. 18521850

2008
Entrez Id: 27030
Gene Symbol: MLH3
MLH3
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.500 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.500 Biomarker CLINGEN Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse. 16204034

2005
Entrez Id: 27030
Gene Symbol: MLH3
MLH3
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
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: 27030
Gene Symbol: MLH3
MLH3
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.500 Biomarker CLINGEN Expression of the MutL homologue hMLH3 in human cells and its role in DNA mismatch repair. 16322221

2005
Entrez Id: 9156
Gene Symbol: EXO1
EXO1
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
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: 9156
Gene Symbol: EXO1
EXO1
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.310 Biomarker CLINGEN Identification of factors interacting with hMSH2 in the fetal liver utilizing the yeast two-hybrid system. In vivo interaction through the C-terminal domains of hEXO1 and hMSH2 and comparative expression analysis. 10856833

2000
Entrez Id: 9156
Gene Symbol: EXO1
EXO1
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.310 Biomarker CLINGEN EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer. 12517792

2003
Entrez Id: 9156
Gene Symbol: EXO1
EXO1
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.310 Biomarker CLINGEN Functional alterations of human exonuclease 1 mutants identified in atypical hereditary nonpolyposis colorectal cancer syndrome. 12414623

2002
Entrez Id: 9156
Gene Symbol: EXO1
EXO1
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.310 Biomarker CLINGEN HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes. 11429708

2001
Entrez Id: 9156
Gene Symbol: EXO1
EXO1
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.310 Biomarker CLINGEN Tumor progression in Apc(1638N) mice with Exo1 and Fen1 deficiencies. 17452984

2007
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.300 Biomarker CLINGEN p27kip1 deficiency impairs G2/M arrest in response to DNA damage, leading to an increase in genetic instability. 17954563

2008
Entrez Id: 1027
Gene Symbol: CDKN1B
CDKN1B
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.300 Biomarker CLINGEN Down-regulation of p27 is associated with development of colorectal adenocarcinoma metastases. 9736017

1998
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.300 Biomarker CLINGEN DNA damage during reoxygenation elicits a Chk2-dependent checkpoint response. 16478982

2006
Entrez Id: 64218
Gene Symbol: SEMA4A
SEMA4A
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
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: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
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: 2052
Gene Symbol: EPHX1
EPHX1
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
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: 79728
Gene Symbol: PALB2
PALB2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
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: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.300 Biomarker CLINGEN Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. 28135145

2017
Entrez Id: 4437
Gene Symbol: MSH3
MSH3
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
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: 472
Gene Symbol: ATM
ATM
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
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