Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C0004991
Disease: Benign neoplasm of colon
Benign neoplasm of colon
0.300 Biomarker CLINGEN 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: 5424
Gene Symbol: POLD1
POLD1
CUI: C0004991
Disease: Benign neoplasm of colon
Benign neoplasm of colon
0.300 Biomarker CLINGEN Human POLD1 modulates cell cycle progression and DNA damage repair. 26087769

2015

Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C0004991
Disease: Benign neoplasm of colon
Benign neoplasm of colon
0.300 Biomarker CLINGEN Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809

2015

Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C0004991
Disease: Benign neoplasm of colon
Benign neoplasm of colon
0.300 Biomarker CLINGEN Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication. 25228659

2015

Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C0004991
Disease: Benign neoplasm of colon
Benign neoplasm of colon
0.300 Biomarker CLINGEN Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. 24309898

2014

Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C0004991
Disease: Benign neoplasm of colon
Benign neoplasm of colon
0.300 Biomarker CLINGEN Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. 23263490

2013

Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C0004991
Disease: Benign neoplasm of colon
Benign neoplasm of colon
0.300 Biomarker CLINGEN A cancer-associated DNA polymerase delta variant modeled in yeast causes a catastrophic increase in genomic instability. 19966286

2010

Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C0004991
Disease: Benign neoplasm of colon
Benign neoplasm of colon
0.300 Biomarker CLINGEN Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthesis in human cells. 20227374

2010

Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C0004991
Disease: Benign neoplasm of colon
Benign neoplasm of colon
0.300 Biomarker CLINGEN DNA polymerase epsilon and delta proofreading suppress discrete mutator and cancer phenotypes in mice. 19805137

2009

Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C0004991
Disease: Benign neoplasm of colon
Benign neoplasm of colon
0.300 Biomarker CLINGEN A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae. 16699561

2006

Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C0004991
Disease: Benign neoplasm of colon
Benign neoplasm of colon
0.300 Biomarker CLINGEN High incidence of epithelial cancers in mice deficient for DNA polymerase delta proofreading. 12429860

2002

Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C0004991
Disease: Benign neoplasm of colon
Benign neoplasm of colon
0.300 Biomarker CLINGEN Increased rates of genomic deletions generated by mutations in the yeast gene encoding DNA polymerase delta or by decreases in the cellular levels of DNA polymerase delta. 11003646

2000