Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.900 GeneticVariation CLINVAR "APC mutations in sporadic colorectal tumors: A mutational ""hotspot"" and interdependence of the ""two hits""." 10737795

2000
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR A genetic progression model of Braf(V600E)-induced intestinal tumorigenesis reveals targets for therapeutic intervention. 23845441

2013
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.900 GeneticVariation CLINVAR A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas. 23204322

2012
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.900 GeneticVariation CLINVAR A unique profile of adenomatous polyposis coli gene mutations in Iranian patients suffering sporadic colorectal cancer. 24518971

2014
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Alterations of BRAF and HIPK2 loci predominate in sporadic pilocytic astrocytoma. 19794125

2009
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Antitumor activity of BRAF inhibitor vemurafenib in preclinical models of BRAF-mutant colorectal cancer. 22180495

2012
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.200 GeneticVariation CLINVAR APC inhibits ERK pathway activation and cellular proliferation induced by RAS. 16478791

2006
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.900 GeneticVariation CLINVAR APC mutations occur early during colorectal tumorigenesis. 1528264

1992
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Association of KRAS G13D tumor mutations with outcome in patients with metastatic colorectal cancer treated with first-line chemotherapy with or without cetuximab. 22734028

2012
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Association of KRAS p.G13D mutation with outcome in patients with chemotherapy-refractory metastatic colorectal cancer treated with cetuximab. 20978259

2010
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.410 CausalMutation CLINVAR AZD6244 (ARRY-142886), a potent inhibitor of mitogen-activated protein kinase/extracellular signal-regulated kinase kinase 1/2 kinases: mechanism of action in vivo, pharmacokinetic/pharmacodynamic relationship, and potential for combination in preclinical models. 17699718

2007
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR BRAF as a target for cancer therapy. 21426297

2011
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.410 CausalMutation CLINVAR BRAF mutation predicts sensitivity to MEK inhibition. 16273091

2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR BRAF V600E is a determinant of sensitivity to proteasome inhibitors. 24107445

2013
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR BRAF V600E mutation and resistance to anti-EGFR monoclonal antibodies in patients with metastatic colorectal cancer: a meta-analysis. 20857202

2011
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR BRAF(V600E) efficient transformation and induction of microsatellite instability versus KRAS(G12V) induction of senescence markers in human colon cancer cells. 19881948

2009
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR BRAF, p53 and SOX2 in anaplastic thyroid carcinoma: evidence for multistep carcinogenesis. 21716161

2011
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR BRAFV600E mutation and its association with clinicopathological features of colorectal cancer: a systematic review and meta-analysis. 24594804

2014
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.490 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974

2008
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.160 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974

2008
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Cetuximab treatment for metastatic colorectal cancer with KRAS p.G13D mutations improves progression-free survival. 26623049

2015
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.900 GeneticVariation CLINVAR Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. 8187091

1994
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Clinical biomarkers in oncology: focus on colorectal cancer. 19537845

2009
Entrez Id: 208
Gene Symbol: AKT2
AKT2
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.300 GeneticVariation CLINVAR Colorectal cancer: mutations in a signalling pathway. 16094359

2005
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.900 GeneticVariation CLINVAR Comprehensive molecular characterization of human colon and rectal cancer. 22810696

2012