Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.200 GeneticVariation CLINVAR Functional analysis of receptor tyrosine kinase mutations in lung cancer identifies oncogenic extracellular domain mutations of ERBB2. 22908275

2012
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.200 GeneticVariation CLINVAR GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation. 21835143

2012
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.200 GeneticVariation CLINVAR Somatic mutations in PI3Kalpha: structural basis for enzyme activation and drug design. 19962457

2010
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.200 GeneticVariation CLINVAR MEK1 mutations confer resistance to MEK and B-RAF inhibition. 19915144

2009
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.200 GeneticVariation CLINVAR p53 regulates glucose metabolism through an IKK-NF-kappaB pathway and inhibits cell transformation. 18391940

2008
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.200 GeneticVariation CLINVAR Structural basis for understanding oncogenic p53 mutations and designing rescue drugs. 17015838

2006
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.200 GeneticVariation CLINVAR Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. 15035987

2004
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.200 GeneticVariation CLINVAR Role of the p53-homologue p73 in E2F1-induced apoptosis. 11101847

2000
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.200 CausalMutation CLINVAR

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.200 GeneticVariation CLINVAR

Entrez Id: 100270680
Gene Symbol: CASC11
CASC11
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.140 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 CausalMutation CLINVAR