DisGeNET - a database of gene-disease associations

Source: ALL

Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 ×

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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:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.600

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

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

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:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.600

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

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.600

GeneticVariation

CLINVAR

GESPA: classifying nsSNPs to predict disease association.

26206375

2015

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.600

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

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.600

GeneticVariation

CLINVAR

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

26344056

2015

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.600

CausalMutation

CLINVAR

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

26344056

2015

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.600

GeneticVariation

CLINVAR

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

24501277

2014

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.600

GeneticVariation

UNIPROT

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

24501277

2014

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.600

CausalMutation

CLINVAR

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:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

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:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.600

GeneticVariation

UNIPROT

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:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.600

GeneticVariation

CLINVAR

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:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.600

GeneticVariation

CLINVAR

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

16699561

2006

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.600

SusceptibilityMutation

CLINVAR

Entrez Id:	5424
Gene Symbol:	POLD1

POLD1

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.600

Biomarker

GENOMICS_ENGLAND

Entrez Id:	26018
Gene Symbol:	LRIG1

LRIG1

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.100

GeneticVariation

GWASCAT

Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

29917119

2019

Entrez Id:	746
Gene Symbol:	TMEM258

TMEM258

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

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:	6311
Gene Symbol:	ATXN2

ATXN2

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.100

GeneticVariation

GWASCAT

Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

29917119

2019

Entrez Id:	103752584
Gene Symbol:	CCND2-AS1

CCND2-AS1

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.100

GeneticVariation

GWASCAT

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

31089142

2019

Entrez Id:	54596
Gene Symbol:	L1TD1

L1TD1

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

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:	745
Gene Symbol:	MYRF

MYRF

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

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:	3915
Gene Symbol:	LAMC1

LAMC1

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.100

GeneticVariation

GWASCAT

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

31089142

2019

Entrez Id:	3915
Gene Symbol:	LAMC1

LAMC1

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.100

GeneticVariation

GWASCAT

Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

29917119

2019

Entrez Id:	727677
Gene Symbol:	CASC8

CASC8

CUI:	C2675481
Disease:	COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

0.100

GeneticVariation

GWASCAT

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

30529582

2019