GNAQ, G protein subunit alpha q, 2776

N. diseases: 18; N. variants: 6
Disease: Sturge-Weber Syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns. 28126187 2017
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. 26778290 2016
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		0.800 SomaticCausalMutation disease ORPHANET The Sturge-Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ. 23656586 2013
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		0.800 GeneticVariation disease UNIPROT The Sturge-Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ. 23656586 2013
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		0.800 Biomarker disease CTD_human The Sturge-Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ. 23656586 2013
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND