Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease: melanoma
melanoma 		0.700 CausalMutation CLINVAR Combination small molecule MEK and PI3K inhibition enhances uveal melanoma cell death in a mutant GNAQ- and GNA11-dependent manner. 22733540

2012
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease: melanoma
melanoma 		0.700 CausalMutation CLINVAR Protein kinase C inhibitor AEB071 targets ocular melanoma harboring GNAQ mutations via effects on the PKC/Erk1/2 and PKC/NF-κB pathways. 22653968

2012
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease: melanoma
melanoma 		0.700 CausalMutation CLINVAR The protein kinase C inhibitor enzastaurin exhibits antitumor activity against uveal melanoma. 22253748

2012
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease: melanoma
melanoma 		0.700 CausalMutation CLINVAR Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. 22808163

2012
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease: melanoma
melanoma 		0.700 CausalMutation CLINVAR Mutations in GNA11 in uveal melanoma. 21083380

2010
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease: melanoma
melanoma 		0.700 CausalMutation CLINVAR Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. 19078957

2009
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease: melanoma
melanoma 		0.700 CausalMutation CLINVAR Oncogenic mutations in GNAQ occur early in uveal melanoma. 18719078

2008
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease: melanoma
melanoma 		0.700 CausalMutation CLINVAR Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. 1328859

1992
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease: melanoma
melanoma 		0.700 CausalMutation CLINVAR GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 2549426

1989