GNAQ, G protein subunit alpha q, 2776

N. diseases: 219; N. variants: 7
Disease: Primary malignant neoplasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 GeneticVariation group BEFREE GNAQ mutations occur in about half of UMs, representing the most common known oncogenic mutation in this cancer. 18719078 2008
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 GeneticVariation group BEFREE Capture-based next-generation sequencing (using an assay that targets the coding regions of more than 500 cancer genes) identified an activating hotspot GNAQ mutation in 2 of 3 (67%) tested samples, and one of these cases also had a hotspot mutation in PIK3CA. 27090685 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 GeneticVariation group BEFREE Furthermore, the gene GNAQ, which encodes for Gαq, has recently been identified as a cancer driver gene. 30849518 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 GeneticVariation group BEFREE Pattern 4b in VTI (odds ratio, OR:15.278), not circumscribed margin of lesion (OR:12.346), SWS mean >4.6 m/s in VTIQ (OR:11.896), and age elder than 50 years (OR:6.303) were identified to be independent predictors for malignancy. 28798325 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 GeneticVariation group BEFREE Targeted next-generation sequencing of the coding sequence of 275 known cancer genes including GNAQ was performed in both specimens. 25188413 2014