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 [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
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.900 GeneticVariation CLINVAR APC mutations occur early during colorectal tumorigenesis. 1528264

1992
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.900 GeneticVariation 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
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: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Somatic alterations of the DPC4 gene in human colorectal cancers in vivo. 8898652

1996
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR TGF-beta signaling and cancer: structural and functional consequences of mutations in Smads. 9679244

1998
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Inactivation of both alleles of the DPC4/SMAD4 gene in advanced colorectal cancers: identification of seven novel somatic mutations in tumors from Japanese patients. 10479724

1999
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: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Transcriptional control by the TGF-beta/Smad signaling system. 10775259

2000
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.900 GeneticVariation CLINVAR Mutations of the APC gene in human sporadic colorectal cancers. 12374230

2002
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Role of Smad4 (DPC4) inactivation in human cancer. 12821112

2003
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Molecular and functional consequences of Smad4 C-terminal missense mutations in colorectal tumour cells. 14715079

2004
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.490 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419

2004
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.490 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963

2004
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.160 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963

2004
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.160 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419

2004
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR Randomized phase II trial of the clinical and biological effects of two dose levels of gefitinib in patients with recurrent colorectal adenocarcinoma. 16361624

2005
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.490 GeneticVariation CLINVAR Functional analysis of PIK3CA gene mutations in human colorectal cancer. 15930273

2005
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.490 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370

2005
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: 5728
Gene Symbol: PTEN
PTEN
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.160 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370

2005
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.500 CausalMutation CLINVAR KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer. 16618717

2006
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: 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