rs121913492, GNAQ

N. diseases: 11
Disease: melanoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540 2012
melanoma
CUI: C0025202
Disease: melanoma
0.740 GeneticVariation BEFREE Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540 2012
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540 2012
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540 2012
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. 19078957 2009
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. 19078957 2009
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. 19078957 2009
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 2549426 1989
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 2549426 1989
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 2549426 1989
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. 22808163 2012
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. 22808163 2012
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. 22808163 2012
melanoma
CUI: C0025202
Disease: melanoma
0.740 GeneticVariation BEFREE Intriguingly, enforced expression of GNAQ(Q209L) progressively eliminated melanocytes from the interfollicular epidermis in adults, possibly explaining the near absence of GNAQ(Q209) mutations in human epithelial melanomas. 26113083 2015
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. 1328859 1992
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. 1328859 1992
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. 1328859 1992
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR Mutations in GNA11 in uveal melanoma. 21083380 2010
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR Mutations in GNA11 in uveal melanoma. 21083380 2010
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR Mutations in GNA11 in uveal melanoma. 21083380 2010
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR Oncogenic mutations in GNAQ occur early in uveal melanoma. 18719078 2008
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR Oncogenic mutations in GNAQ occur early in uveal melanoma. 18719078 2008
melanoma
CUI: C0025202
Disease: melanoma
0.740 CausalMutation CLINVAR Oncogenic mutations in GNAQ occur early in uveal melanoma. 18719078 2008
melanoma
CUI: C0025202
Disease: melanoma
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
melanoma
CUI: C0025202
Disease: melanoma
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