DisGeNET - a database of gene-disease associations

Colorectal Neoplasms, C0009404

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Source: CLINVAR ×

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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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	208
Gene Symbol:	AKT2

AKT2

0.300

GeneticVariation

group

CLINVAR

Colorectal cancer: mutations in a signalling pathway.

16094359

2005

Entrez Id:	208
Gene Symbol:	AKT2

AKT2

0.300

GeneticVariation

group

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

Entrez Id:	324
Gene Symbol:	APC

APC

0.900

GeneticVariation

group

CLINVAR

Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors.

8187091

1994

Entrez Id:	324
Gene Symbol:	APC

APC

0.900

GeneticVariation

group

CLINVAR

A unique profile of adenomatous polyposis coli gene mutations in Iranian patients suffering sporadic colorectal cancer.

24518971

2014

Entrez Id:	324
Gene Symbol:	APC

APC

0.900

GeneticVariation

group

CLINVAR

HD chromoendoscopy coupled with DNA mass spectrometry profiling identifies somatic mutations in microdissected human proximal aberrant crypt foci.

24651453

2014

Entrez Id:	324
Gene Symbol:	APC

APC

0.900

GeneticVariation

group

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

Entrez Id:	324
Gene Symbol:	APC

APC

0.900

GeneticVariation

group

CLINVAR

"APC mutations in sporadic colorectal tumors: A mutational ""hotspot"" and interdependence of the ""two hits""."

10737795

2000

Entrez Id:	324
Gene Symbol:	APC

APC

0.900

GeneticVariation

group

CLINVAR

Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients.

21901162

2011

Entrez Id:	324
Gene Symbol:	APC

APC

0.900

GeneticVariation

group

CLINVAR

Genetic analysis in APC, KRAS, and TP53 in patients with stomach and colon cancer.

24861525

2015

Entrez Id:	324
Gene Symbol:	APC

APC

0.900

GeneticVariation

group

CLINVAR

Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.

23700467

2013

Entrez Id:	324
Gene Symbol:	APC

APC

0.900

GeneticVariation

group

CLINVAR

[The effect of occlusion time in the measurement of compliance and resistance of the respiratory system using passive expiration in infants].

2281069

1990

Entrez Id:	324
Gene Symbol:	APC

APC

0.900

GeneticVariation

group

CLINVAR

Comprehensive mutation analysis in colorectal flat adenomas.

22848674

2012

Entrez Id:	324
Gene Symbol:	APC

APC

0.900

GeneticVariation

group

CLINVAR

A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas.

23204322

2012

Entrez Id:	324
Gene Symbol:	APC

APC

0.900

GeneticVariation

group

CLINVAR

Comprehensive molecular characterization of human colon and rectal cancer.

22810696

2012

Entrez Id:	324
Gene Symbol:	APC

APC

0.900

GeneticVariation

group

CLINVAR

Mutations of the APC gene in human sporadic colorectal cancers.

12374230

2002

Entrez Id:	324
Gene Symbol:	APC

APC

0.900

GeneticVariation

group

CLINVAR

Genetic alterations of APC, K-ras, p53, MSI, and MAGE in Korean colorectal cancer patients.

17704924

2008

Entrez Id:	324
Gene Symbol:	APC

APC

0.900

GeneticVariation

group

CLINVAR

APC mutations occur early during colorectal tumorigenesis.

1528264

1992

Entrez Id:	324
Gene Symbol:	APC

APC

0.900

GeneticVariation

group

CLINVAR

Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene.

1338904

1992

Entrez Id:	324
Gene Symbol:	APC

APC

0.900

GeneticVariation

group

CLINVAR

Prevalence of mutations in APC, CTNNB1, and BRAF in Tunisian patients with sporadic colorectal cancer.

18992635

2008

Entrez Id:	567
Gene Symbol:	B2M

B2M

0.110

GeneticVariation

group

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.500

CausalMutation

group

CLINVAR

Vemurafenib synergizes with nutlin-3 to deplete survivin and suppresses melanoma viability and tumor growth.

23812671

2013

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.500

CausalMutation

group

CLINVAR

BRAF V600E mutation and resistance to anti-EGFR monoclonal antibodies in patients with metastatic colorectal cancer: a meta-analysis.

20857202

2011

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.500

CausalMutation

group

CLINVAR

Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis.

20619739

2010

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.500

CausalMutation

group

CLINVAR

Distinguishing clinicopathologic features of patients with V600E and V600K BRAF-mutant metastatic melanoma.

22535154

2012

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.500

CausalMutation

group

CLINVAR

Alterations of BRAF and HIPK2 loci predominate in sporadic pilocytic astrocytoma.

19794125

2009