DisGeNET - a database of gene-disease associations

POLD1, DNA polymerase delta 1, catalytic subunit, 5424

N. diseases: 189; N. variants: 9

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587777627

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.800

GeneticVariation

CLINVAR

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

dbSNP:

rs397514632

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.800

GeneticVariation

CLINVAR

GESPA: classifying nsSNPs to predict disease association.

26206375

2015

dbSNP:

rs397514632

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.800

CausalMutation

CLINVAR

Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas.

26344056

2015

dbSNP:

rs397514632

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.800

GeneticVariation

CLINVAR

Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas.

26344056

2015

dbSNP:

rs397514632

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.800

GeneticVariation

CLINVAR

Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

25559809

2015

dbSNP:

rs397514632

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.800

CausalMutation

CLINVAR

Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

25559809

2015

dbSNP:

rs397514632

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.800

GeneticVariation

UNIPROT

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.

24501277

2014

dbSNP:

rs587777627

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.800

GeneticVariation

CLINVAR

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.

24501277

2014

dbSNP:

rs587777627

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.800

GeneticVariation

UNIPROT

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.

24501277

2014

dbSNP:

rs397514632

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.800

CausalMutation

CLINVAR

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

23263490

2013

dbSNP:

rs397514632

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.800

GeneticVariation

CLINVAR

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

23263490

2013

dbSNP:

rs397514632

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.800

GeneticVariation

UNIPROT

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

23263490

2013

dbSNP:

rs397514632

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.800

GeneticVariation

CLINVAR

Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers.

23447401

2013

dbSNP:

rs587777627

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.800

GeneticVariation

UNIPROT

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

23263490

2013

dbSNP:

rs587777627

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.800

GeneticVariation

CLINVAR

A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae.

16699561

2006

dbSNP:

rs397514632

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs587777627

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs587777627

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Characterization of a novel POLD1 missense founder mutation in a Spanish population.

28306219

2017

dbSNP:

rs587777627

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

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

dbSNP:

rs398122386

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.

26350127

2015

dbSNP:

rs398122386

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.

26172944

2015

dbSNP:

rs587777627

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.

24501277

2014

dbSNP:

rs398122386

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.

23770608

2013

dbSNP:

rs587777627

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae.

16699561

2006

dbSNP:

rs398122386

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C3715192
Disease:

ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME

0.700

CausalMutation

CLINVAR