GNA11, G protein subunit alpha 11, 2767

N. diseases: 122; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777019
rs587777019
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C1840347
Disease:
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) 		0.800 GeneticVariation UNIPROT Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 23802516 2013
dbSNP: rs587777020
rs587777020
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C3809243
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		0.800 GeneticVariation UNIPROT Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 23802516 2013
dbSNP: rs587777020
rs587777020
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C3809243
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		0.800 GeneticVariation UNIPROT A rude awakening--the perioperative sleep apnea epidemic. 23782177 2013
dbSNP: rs587777021
rs587777021
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C3809243
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		0.800 GeneticVariation UNIPROT A rude awakening--the perioperative sleep apnea epidemic. 23782177 2013
dbSNP: rs587777021
rs587777021
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C3809243
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		0.800 GeneticVariation UNIPROT Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 23802516 2013
dbSNP: rs587777022
rs587777022
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C3809243
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		0.800 GeneticVariation UNIPROT Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. 23802516 2013
dbSNP: rs587777022
rs587777022
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C3809243
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		0.800 GeneticVariation UNIPROT A rude awakening--the perioperative sleep apnea epidemic. 23782177 2013
dbSNP: rs140749796
rs140749796
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C3809243
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		0.800 GeneticVariation UNIPROT
dbSNP: rs140749796
rs140749796
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C3809243
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs587777019
rs587777019
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C1840347
Disease:
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777020
rs587777020
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C3809243
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777021
rs587777021
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C3809243
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587777022
rs587777022
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C3809243
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1057519742
rs1057519742
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C0025202
Disease:
melanoma 		0.750 GeneticVariation BEFREE Sequencing of melanoma driver genes revealed GNAQ (p.Q209L) mutations in two samples; although it is possible that these samples represent extraocular spread of an occult uveal melanoma. 30558566 2018
dbSNP: rs1057519742
rs1057519742
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C0025202
Disease:
melanoma 		0.750 GeneticVariation BEFREE To our knowledge, this is the first case report to demonstrate cutaneous origin melanoma harboring a GNA11 Q209L mutation. 26825879 2016
dbSNP: rs1057519742
rs1057519742
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C0025202
Disease:
melanoma 		0.750 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
dbSNP: rs1057519742
rs1057519742
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C0025202
Disease:
melanoma 		0.750 GeneticVariation BEFREE The GNAQ A626C mutation (Q209P) was almost exclusively observed in choroidal melanomas from the illuminated posterior side. 26368812 2015
dbSNP: rs1057519742
rs1057519742
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C0025202
Disease:
melanoma 		T 0.750 CausalMutation CLINVAR Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. 22808163 2012
dbSNP: rs1057519742
rs1057519742
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C0025202
Disease:
melanoma 		0.750 GeneticVariation BEFREE Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540 2012
dbSNP: rs1057519742
rs1057519742
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C0025202
Disease:
melanoma 		T 0.750 CausalMutation CLINVAR Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540 2012
dbSNP: rs1057519742
rs1057519742
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C0025202
Disease:
melanoma 		C 0.750 CausalMutation CLINVAR Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540 2012
dbSNP: rs1057519742
rs1057519742
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C0025202
Disease:
melanoma 		C 0.750 CausalMutation CLINVAR Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. 22808163 2012
dbSNP: rs1057519742
rs1057519742
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C0025202
Disease:
melanoma 		C 0.750 CausalMutation CLINVAR Mutations in GNA11 in uveal melanoma. 21083380 2010
dbSNP: rs1057519742
rs1057519742
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C0025202
Disease:
melanoma 		T 0.750 CausalMutation CLINVAR Mutations in GNA11 in uveal melanoma. 21083380 2010
dbSNP: rs1057519742
rs1057519742
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C0025202
Disease:
melanoma 		C 0.750 CausalMutation CLINVAR Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. 1328859 1992