GNAQ, G protein subunit alpha q, 2776

N. diseases: 219; N. variants: 7
Disease: Capillary malformation (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.660 GeneticVariation disease BEFREE Port-wine stains (PWS) are capillary malformations associated with mutation in the GNAQ (NM_000441.1) gene. 31692010 2020
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.660 GeneticVariation disease BEFREE Association of Somatic GNAQ Mutation With Capillary Malformations in a Case of Choroidal Hemangioma. 30422215 2019
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.660 GeneticVariation disease BEFREE Phenotypic association of presence of a somatic GNAQ mutation with port-wine stain distribution in capillary malformation. 31532024 2019
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.660 GeneticVariation disease BEFREE Several studies confirm the GNAQ R183Q mutation in 90% of nonsyndromic and Sturge-Weber syndrome (SWS) capillary malformations. 30870248 2019
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.660 GeneticVariation disease BEFREE Human capillary malformation tissue obtained from 8 patients that had tested negative for GNAQ mutations were studied. 28120216 2017
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.660 GeneticVariation disease BEFREE Eight capillary malformations contained GNAQ p.R183Q mutant cells, two lesions had novel GNAQ mutations (p.R183L and p.R183G), and three capillary malformations did not have a detectable GNAQ p.R183 mutation. 26368330 2016
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.660 Biomarker disease CTD_human
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.660 Biomarker disease GENOMICS_ENGLAND
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.660 CausalMutation disease CLINVAR