DisGeNET - a database of gene-disease associations

Source: ALL

Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5426
Gene Symbol:	POLE

POLE

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.600

GeneticVariation

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

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.600

Biomarker

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

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.600

CausalMutation

CLINVAR

Immunogenomics of Hypermutated Glioblastoma: A Patient with Germline POLE Deficiency Treated with Checkpoint Blockade Immunotherapy.

27683556

2016

Entrez Id:	5426
Gene Symbol:	POLE

POLE

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.600

GeneticVariation

UNIPROT

A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.

25860647

2015

Entrez Id:	5426
Gene Symbol:	POLE

POLE

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.600

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:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.600

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:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.600

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:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.600

GeneticVariation

UNIPROT

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

24501277

2014

Entrez Id:	5426
Gene Symbol:	POLE

POLE

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.600

CausalMutation

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

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.600

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:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.600

GeneticVariation

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:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.600

GeneticVariation

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

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.600

GeneticVariation

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

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.600

CausalMutation

CLINVAR

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

16699561

2006

Entrez Id:	5426
Gene Symbol:	POLE

POLE

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.600

CausalMutation

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

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.600

SusceptibilityMutation

CLINVAR

Entrez Id:	4092
Gene Symbol:	SMAD7

SMAD7

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.100

GeneticVariation

GWASCAT

Discovery of common and rare genetic risk variants for colorectal cancer.

30510241

2019

Entrez Id:	2289
Gene Symbol:	FKBP5

FKBP5

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.100

GeneticVariation

GWASCAT

Discovery of common and rare genetic risk variants for colorectal cancer.

30510241

2019

Entrez Id:	100750225
Gene Symbol:	PCAT1

PCAT1

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.100

GeneticVariation

GWASCAT

Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

31089142

2019

Entrez Id:	894
Gene Symbol:	CCND2

CCND2

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.100

GeneticVariation

GWASCAT

Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

29917119

2019

Entrez Id:	54596
Gene Symbol:	L1TD1

L1TD1

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.100

GeneticVariation

GWASCAT

Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.

30529582

2019

Entrez Id:	4093
Gene Symbol:	SMAD9

SMAD9

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.100

GeneticVariation

GWASCAT

Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

31089142

2019

Entrez Id:	143187
Gene Symbol:	VTI1A

VTI1A

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.100

GeneticVariation

GWASCAT

Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.

30529582

2019

Entrez Id:	400619
Gene Symbol:	LINC00511

LINC00511

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.100

GeneticVariation

GWASCAT

Discovery of common and rare genetic risk variants for colorectal cancer.

30510241

2019

Entrez Id:	4035
Gene Symbol:	LRP1

LRP1

CUI:	C3554460
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

0.100

GeneticVariation

GWASCAT

Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

31089142

2019