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 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 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 Targeted next-generation sequencing of the coding sequence of 275 known cancer genes including GNAQ was performed in both specimens. 25188413 2014
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