DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Colorectal Neoplasms ×

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:

rs10049390

SLCO2A1

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

GeneticVariation

GWASCAT

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

30510241

2019

dbSNP:

rs1011970

CDKN2B-AS1

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

GeneticVariation

GWASCAT

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

27197191

2016

dbSNP:

rs10152518

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

GeneticVariation

GWASCAT

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

31089142

2019

dbSNP:

rs1023835002

B2M ; PATL2

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

GeneticVariation

CLINVAR

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

26619011

2016

dbSNP:

rs1023835002

B2M ; PATL2

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

GeneticVariation

CLINVAR

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

26619011

2016

dbSNP:

rs1028166

TENM3 ; TENM3-AS1

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

GeneticVariation

GWASCAT

No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk.

25192705

2014

dbSNP:

rs1035209

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

GeneticVariation

GWASCAT

Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

29917119

2019

dbSNP:

rs1035209

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

GeneticVariation

GWASCAT

Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.

24737748

2014

dbSNP:

rs10411210

RHPN2

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

GeneticVariation

GWASCAT

Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

29917119

2019

dbSNP:

rs10411210

RHPN2

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

GeneticVariation

GWASCAT

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

30529582

2019

dbSNP:

rs10411210

RHPN2

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

19011631

2008

dbSNP:

rs10457678

ECT2L

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

26621817

2015

dbSNP:

rs104886003

PIK3CA

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

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

26619011

2016

dbSNP:

rs104886003

PIK3CA

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

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

26619011

2016

dbSNP:

rs104886003

PIK3CA

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials.

22162582

2012

dbSNP:

rs104886003

PIK3CA

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

Phase I, dose-escalation study of BKM120, an oral pan-Class I PI3K inhibitor, in patients with advanced solid tumors.

22162589

2012

dbSNP:

rs104886003

PIK3CA

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

Phase I, dose-escalation study of BKM120, an oral pan-Class I PI3K inhibitor, in patients with advanced solid tumors.

22162589

2012

dbSNP:

rs104886003

PIK3CA

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials.

22162582

2012

dbSNP:

rs104886003

PIK3CA

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models.

20453058

2010

dbSNP:

rs104886003

PIK3CA

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models.

20453058

2010

dbSNP:

rs104886003

PIK3CA

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

CausalMutation

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

dbSNP:

rs104886003

PIK3CA

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

CausalMutation

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

dbSNP:

rs104886003

PIK3CA

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

PIK3CA mutations in colorectal cancer are associated with clinical resistance to EGFR-targeted monoclonal antibodies.

19223544

2009

dbSNP:

rs104886003

PIK3CA

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

PIK3CA mutations predict local recurrences in rectal cancer patients.

19903786

2009

dbSNP:

rs104886003

PIK3CA

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

PIK3CA mutations are not a major determinant of resistance to the epidermal growth factor receptor inhibitor cetuximab in metastatic colorectal cancer.

19366826

2009