GNAQ, G protein subunit alpha q, 2776

N. diseases: 219; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027961
Disease: Nevus of Ota
Nevus of Ota
0.110 GeneticVariation disease BEFREE The Nevus of Ota and ulterior lesions contained GNAQ mutations were c-KIT positive, and tumors showed an increased RAS pathway activity during progression. 26701415 2016
CUI: C0027961
Disease: Nevus of Ota
Nevus of Ota
0.110 CausalMutation disease CLINVAR