GNAQ, G protein subunit alpha q, 2776

N. diseases: 18; N. variants: 6
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514698
rs397514698
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0038505
Disease:
Sturge-Weber Syndrome 		0.880 GeneticVariation UNIPROT We identified a nonsynonymous single-nucleotide variant (c.548G→A, p.Arg183Gln) in GNAQ in samples of affected tissue from 88% of the participants (23 of 26) with the Sturge-Weber syndrome and from 92% of the participants (12 of 13) with apparently nonsyndromic port-wine stains, but not in any of the samples of affected tissue from 4 participants with an unrelated cerebrovascular malformation or in any of the samples from the 6 controls. 23656586 2013
dbSNP: rs397514698
rs397514698
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0038505
Disease:
Sturge-Weber Syndrome 		T 0.880 CausalMutation CLINVAR
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0220633
Disease:
Uveal melanoma 		A 0.750 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0220633
Disease:
Uveal melanoma 		G 0.750 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs1057519853
rs1057519853
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0220633
Disease:
Uveal melanoma 		AA 0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		C 0.740 CausalMutation CLINVAR The protein kinase C inhibitor enzastaurin exhibits antitumor activity against uveal melanoma. 22253748 2012
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		G 0.740 CausalMutation CLINVAR The protein kinase C inhibitor enzastaurin exhibits antitumor activity against uveal melanoma. 22253748 2012
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		A 0.740 CausalMutation CLINVAR Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540 2012
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		A 0.740 CausalMutation CLINVAR The protein kinase C inhibitor enzastaurin exhibits antitumor activity against uveal melanoma. 22253748 2012
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		C 0.740 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
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		C 0.740 CausalMutation CLINVAR Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540 2012
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		A 0.740 CausalMutation CLINVAR Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. 22808163 2012
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		G 0.740 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
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		G 0.740 CausalMutation CLINVAR Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. 22808163 2012
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		A 0.740 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
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		G 0.740 CausalMutation CLINVAR Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540 2012
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		C 0.740 CausalMutation CLINVAR Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. 22808163 2012
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		G 0.740 CausalMutation CLINVAR Mutations in GNA11 in uveal melanoma. 21083380 2010
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		C 0.740 CausalMutation CLINVAR Mutations in GNA11 in uveal melanoma. 21083380 2010
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		A 0.740 CausalMutation CLINVAR Mutations in GNA11 in uveal melanoma. 21083380 2010
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		A 0.740 CausalMutation CLINVAR Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. 19078957 2009
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		C 0.740 CausalMutation CLINVAR Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. 19078957 2009
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		G 0.740 CausalMutation CLINVAR Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. 19078957 2009
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		A 0.740 CausalMutation CLINVAR Oncogenic mutations in GNAQ occur early in uveal melanoma. 18719078 2008
dbSNP: rs121913492
rs121913492
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0025202
Disease:
melanoma 		G 0.740 CausalMutation CLINVAR Oncogenic mutations in GNAQ occur early in uveal melanoma. 18719078 2008