GNAQ, G protein subunit alpha q, 2776

N. diseases: 219; N. variants: 7
Disease: Phakomatosis cesioflammea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3838883
Disease: Phakomatosis cesioflammea
Phakomatosis cesioflammea 		0.300 SomaticCausalMutation disease ORPHANET Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. 26778290 2016