GNA11, G protein subunit alpha 11, 2767

N. diseases: 122; N. variants: 9
Disease: Port-wine stain with oculocutaneous melanosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1274879
Disease: Port-wine stain with oculocutaneous melanosis
Port-wine stain with oculocutaneous melanosis 		0.320 GeneticVariation disease BEFREE Here, we present three new cases of PPV with features of the cesioflammea and/or cesiomarmorata subtypes and mosaic mutations in GNAQ or GNA11. 30920161 2019
CUI: C1274879
Disease: Port-wine stain with oculocutaneous melanosis
Port-wine stain with oculocutaneous melanosis 		0.320 GeneticVariation disease BEFREE Here, we discover that extensive dermal melanocytosis and phakomatosis pigmentovascularis are associated with activating mutations in GNA11 and GNAQ, genes that encode Gα subunits of heterotrimeric G proteins. 26778290 2016
CUI: C1274879
Disease: Port-wine stain with oculocutaneous melanosis
Port-wine stain with oculocutaneous melanosis 		0.320 Biomarker disease GENOMICS_ENGLAND Here, we discover that extensive dermal melanocytosis and phakomatosis pigmentovascularis are associated with activating mutations in GNA11 and GNAQ, genes that encode Gα subunits of heterotrimeric G proteins. 26778290 2016
CUI: C1274879
Disease: Port-wine stain with oculocutaneous melanosis
Port-wine stain with oculocutaneous melanosis 		0.320 Biomarker disease GENOMICS_ENGLAND
CUI: C1274879
Disease: Port-wine stain with oculocutaneous melanosis
Port-wine stain with oculocutaneous melanosis 		0.320 Biomarker disease GENOMICS_ENGLAND