Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5426
Gene Symbol: POLE
POLE 		0.600 CausalMutation disease CLINVAR Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers. 23447401 2013
Entrez Id: 5426
Gene Symbol: POLE
POLE 		0.600 CausalMutation disease CLINVAR Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. 23263490 2013
Entrez Id: 5426
Gene Symbol: POLE
POLE 		0.600 GeneticVariation disease UNIPROT A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine. 25860647 2015
Entrez Id: 5426
Gene Symbol: POLE
POLE 		0.600 CausalMutation disease CLINVAR Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. 25529843 2015
Entrez Id: 5426
Gene Symbol: POLE
POLE 		0.600 CausalMutation disease CLINVAR Okazaki fragment maturation in yeast. II. Cooperation between the polymerase and 3'-5'-exonuclease activities of Pol delta in the creation of a ligatable nick. 12424237 2003
Entrez Id: 5426
Gene Symbol: POLE
POLE 		0.600 CausalMutation disease CLINVAR Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer. 25370038 2015
Entrez Id: 5426
Gene Symbol: POLE
POLE 		0.600 GeneticVariation disease CLINVAR Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. 23263490 2013
Entrez Id: 5426
Gene Symbol: POLE
POLE 		0.600 CausalMutation disease CLINVAR New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. 24501277 2014
Entrez Id: 5426
Gene Symbol: POLE
POLE 		0.600 GeneticVariation disease UNIPROT Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. 23263490 2013
Entrez Id: 5426
Gene Symbol: POLE
POLE 		0.600 SusceptibilityMutation disease CLINVAR
Entrez Id: 5426
Gene Symbol: POLE
POLE 		0.600 GeneticVariation disease CLINVAR Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers. 23447401 2013
Entrez Id: 5426
Gene Symbol: POLE
POLE 		0.600 CausalMutation disease CLINVAR A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae. 16699561 2006
Entrez Id: 5426
Gene Symbol: POLE
POLE 		0.600 GeneticVariation disease UNIPROT A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency. 27573199 2017
Entrez Id: 5426
Gene Symbol: POLE
POLE 		0.600 GeneticVariation disease UNIPROT New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. 24501277 2014
Entrez Id: 5426
Gene Symbol: POLE
POLE 		0.600 Biomarker disease GENOMICS_ENGLAND POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance. 26133394 2016
Entrez Id: 5426
Gene Symbol: POLE
POLE 		0.600 CausalMutation disease CLINVAR Immunogenomics of Hypermutated Glioblastoma: A Patient with Germline POLE Deficiency Treated with Checkpoint Blockade Immunotherapy. 27683556 2016
Entrez Id: 4092
Gene Symbol: SMAD7
SMAD7 		0.100 GeneticVariation disease GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
Entrez Id: 999
Gene Symbol: CDH1
CDH1 		0.100 GeneticVariation disease GWASCAT Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. 19011631 2008
Entrez Id: 2289
Gene Symbol: FKBP5
FKBP5 		0.100 GeneticVariation disease GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
Entrez Id: 100499183
Gene Symbol: BAALC-AS1
BAALC-AS1 		0.100 GeneticVariation disease GWASCAT Genetic susceptibility markers for a breast-colorectal cancer phenotype: Exploratory results from genome-wide association studies. 29698419 2018
Entrez Id: 5462
Gene Symbol: POU5F1B
POU5F1B 		0.100 GeneticVariation disease GWASCAT A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer. 25990418 2015
Entrez Id: 100750225
Gene Symbol: PCAT1
PCAT1 		0.100 GeneticVariation disease GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
Entrez Id: 100750225
Gene Symbol: PCAT1
PCAT1 		0.100 GeneticVariation disease GWASCAT Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. 23266556 2013
Entrez Id: 894
Gene Symbol: CCND2
CCND2 		0.100 GeneticVariation disease GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119 2019
Entrez Id: 5462
Gene Symbol: POU5F1B
POU5F1B 		0.100 GeneticVariation disease GWASCAT Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. 24836286 2014