GNAQ, G protein subunit alpha q, 2776

N. diseases: 219; N. variants: 7
Disease: Congenital hemangioma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235753
Disease: Congenital hemangioma
Congenital hemangioma 		0.330 GeneticVariation disease BEFREE Both anastomosing hemangioma and congenital hemangioma harbor recurrent mutations in exon 5 of GNAQ and its paralogues. 31189994 2019
CUI: C0235753
Disease: Congenital hemangioma
Congenital hemangioma 		0.330 GeneticVariation disease BEFREE The patient's choroidal tissue was negative for the 3 GNAQ mutations associated with congenital hemangioma and for the infantile hemangioma marker glucose transporter-1. 30422215 2019
CUI: C0235753
Disease: Congenital hemangioma
Congenital hemangioma 		0.330 GeneticVariation disease BEFREE Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma. 27058448 2016
CUI: C0235753
Disease: Congenital hemangioma
Congenital hemangioma 		0.330 Biomarker disease GENOMICS_ENGLAND Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma. 27058448 2016