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: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris
0.410 GeneticVariation disease BEFREE Activating GNAQ or GNA11 hotspot mutations were detected in a mutually exclusive fashion in 84% (16/19) of iris melanomas. 28700778 2017
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris
0.410 SomaticCausalMutation disease ORPHANET Genomic, prognostic, and cell-signaling advances in uveal melanoma. 23714557 2013
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris
0.410 SomaticCausalMutation disease ORPHANET Mutations in GNA11 in uveal melanoma. 21083380 2010
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris
0.410 Biomarker disease HPO