Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5426
Gene Symbol: POLE
POLE
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer. 25370038

2015
Entrez Id: 5426
Gene Symbol: POLE
POLE
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. 24501277

2014
Entrez Id: 5426
Gene Symbol: POLE
POLE
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae. 16699561

2006
Entrez Id: 5426
Gene Symbol: POLE
POLE
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.100 CausalMutation CLINVAR Crystal structures of an NH2-terminal fragment of T4 DNA polymerase and its complexes with single-stranded DNA and with divalent metal ions. 8679562

1996