GNA11, G protein subunit alpha 11, 2767

N. diseases: 122; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE Common mutations that promote uveal melanoma initiation and progression include alterations in G protein subunit alpha q/11 (GNAQ/GNA11) and breast cancer gene 1-associated protein 1 (BAP1). 29206651 2018
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 Biomarker disease BEFREE G Protein subunits alpha Q (GNAQ) and alpha 11 (GNA11) are two of the major driver genes that contribute to the development of uveal melanoma. 28982892 2017
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE Similarities with uveal melanoma were recently suggested as both entities harbor oncogenic mutations in GNAQ and GNA11. 25315378 2015
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 AlteredExpression disease BEFREE Mutations in guanine nucleotide-binding protein Q polypeptide (GNAQ) and guanine nucleotide-binding protein alpha-11 (GNA11), alpha subunits of heterotrimeric G proteins, constitutively activate mitogen-activated protein kinase (MAPK) pathway in uveal melanoma. 26825879 2016
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11. 23778528 2013
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE In this study, we examined the frequency of GNAQ and GNA11 somatic mutations in cases of uveal melanoma in Japan and their relationship with clinicopathologic features or Ki-67-positive cell rates (Ki-67 labeling index: Ki-67 LI) using immunofluorescence methods. 28248732 2018
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE Hence, the authors concluded that MEK and PKC inhibition is synergistic, with superior efficacy to treatment of GNAQ/GNA11 mutant UMs with either drug alone. 24413085 2014
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE The analyses revealed GNA11 mutations, which are typical for uveal melanoma. 23464620 2013
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE GNA11 Q209L Mouse Model Reveals RasGRP3 as an Essential Signaling Node in Uveal Melanoma. 29490280 2018
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE Using high-throughput genotyping, mutually exclusive GNAQ and GNA11 mutations were detected in 31 of 34 UM patients together with a number of non-synonymous changes in established cancer driver genes, PHLPP2, MET, PIK3R1 and IDH-1, variants which have not been previously associated with UM. 30008023 2018
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE Oncogenic mutations in UM involving exons 4 and 5 of GNAQ and GNA11, respectively, were analysed by sequencing. 23456173 2013
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE The Glu209 GNAQ and GNA11 missense variants we identified are common in uveal melanoma and have been shown to constitutively activate MAPK and/or YAP signaling. 27058448 2016
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE However, somatic mutations in either GNAQ or GNA11 are unique to UM tumors and could be used as potential markers to differentiate UM from metastatic CM and act as direct therapeutic targets. 24697775 2014
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE We wanted to gain an understanding of the role of GNAQ, GNA11 and BRAF V600E in the pathogenesis of uveal melanocytoma and in cases of transformation to uveal melanoma and also to perform a differential immunohistochemical study comparing melanocytoma with uveal melanoma. 23685997 2013
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE Recent studies of uveal melanoma have identified activating mutations in GNAQ and GNA11, loss-of-function mutations in the tumor suppressor gene BAP1, and recurrent mutations in codon 625 of SF3B1. 23887304 2014
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE To evaluate clinico-pathological and molecular prognostic factors in a well-defined series of posterior uveal melanoma (UM) with focus on chromosomal aberrations and mutations in the GNAQ, GNA11 and BRCA1-associated protein 1 (BAP1) genes. 28444874 2018
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE Distribution of GNAQ and GNA11 Mutation Signatures in Uveal Melanoma Points to a Light Dependent Mutation Mechanism. 26368812 2015
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE The recent identification of frequent activating mutations in GNAQ or GNA11 in uveal melanoma provides an opportunity to better understand the pathogenesis of this melanoma subtype and to develop rational therapeutics to target the cellular effects mediated by these mutations. 22236444 2012
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE Eighty percent of UMs harbor mutations in the Gαq family members GNAQ and GNA11. 24141786 2014
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 Biomarker disease BEFREE Up to 95 % of all UMs carry somatic mutations in the G-coupled proteins GNAQ and GNA11 promoting anchorage-independent growth and proliferation.About 50 % of UMs are fatal. 25653058 2015
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE In addition, administration of JQ1 to mouse xenograft models of Gnaq-mutant UM resulted in significant inhibition of tumor growth.Collectively, our results define BRD4 targeting as a novel therapeutic intervention against UM with Gnaq/Gna11 mutations. 26397223 2015
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE The frequencies of GNAQ and GNA11 mutations in UM were 45% (38/85) and 35% (30/85) respectively. 31614358 2019
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 Biomarker disease BEFREE The active mutation of G protein subunit alpha q (GNAQ) or G protein subunit alpha 11 (GNA11) is a major trigger for UM. 30320917 2019
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE GNAQ and GNA11 are heterotrimeric G protein alpha subunits, which are mutated in a mutually exclusive pattern in most cases of uveal melanoma, one of the most aggressive cancers. 26113083 2015
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.800 GeneticVariation disease BEFREE Mutations in GNA11 in uveal melanoma. 21083380 2010