GNAQ, G protein subunit alpha q, 2776

N. diseases: 219; N. variants: 7
Disease: Hemangioma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.140 GeneticVariation disease BEFREE Overall, the cherry hemangiomas and cherry hemangioma-like hemangiomas had equal GNA mutation rates (82%), and GNA14 and GNAQ mutations were present in approximately half of cherry hemangiomas and cherry hemangioma-like hemangiomas, respectively.All mutations were mutually exclusive. 31189994 2019
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.140 GeneticVariation disease BEFREE Variants of GNAQ resulting in p.Q209 are characteristic for circumscribed choroidal hemangiomas. 31336681 2019
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.140 GeneticVariation disease BEFREE GNAQ mutations occur in both diffuse and solitary hemangiomas, although at distinct codons. 30537484 2019
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.140 GeneticVariation disease BEFREE Recurrent GNAQ mutations in anastomosing hemangiomas. 28084343 2017
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.140 CausalMutation disease CLINVAR