RGS6, regulator of G protein signaling 6, 9628

N. diseases: 117; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.010 GeneticVariation disease BEFREE In vivo infection of mice with retrovirus expressing PDGF and the p190 GAP domain caused a decreased incidence of oligodendrogliomas compared with that observed with PDGF alone. 12600941 2003
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia 		0.010 Biomarker disease BEFREE In a multivariable Cox proportional hazards model adjusted for baseline age, gender, %-predicted FVC, and %-predicted DLCO via the GAP Stage, extent of fibrosis (via the traction bronchiectasis score) and ever-smoker status, possible UIP pattern on HRCT (versus definite UIP) was associated with reduced hazard of death or lung transplant (HR = 0.42, CI 95% 0.23-0.78, p = 0.006). 28947036 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 AlteredExpression phenotype BEFREE Secondary screening of these genes using custom microarray chips identified ASAP1, a multi-domain adaptor protein with ADP-ribosylation factor-GAP activity, as being potentially involved in tumor progression. 20154719 2010
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		0.010 Biomarker phenotype BEFREE RGS6(-/-) mice exhibit accelerated 7,12-dimethylbenza[α]anthracene (DMBA)-induced tumor initiation and progression, as well as decreased overall survival. 23598467 2013
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.050 Biomarker phenotype BEFREE Re-expression of srGAP3 in a subset of these cell lines inhibits both anchorage-independent growth and cell invasion in a GAP-dependent manner, and this is accompanied by an increase in phosphorylation of the ezrin/radixin/moesin (ERM) family proteins and myosin light chain 2 (MLC2). 23108406 2013
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.050 Biomarker phenotype BEFREE ASAP3 is a focal adhesion-associated Arf GAP that functions in cell migration and invasion. 18400762 2008
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.050 Biomarker phenotype BEFREE The results show the invasion and migration abilities of 4T-1 and SKBR3 cells are significantly enhanced by the presence of HA35 but inhibited by HA117 in both 2D monolayers and 3D spheroids. 28240531 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.050 Biomarker phenotype BEFREE Connexin26 (Cx26), a component of GAP junctions and until recently believed to be a tumor suppressor gene, has been shown to play an important role in lymphatic invasion as well as lymph node and distant metastases in squamous lung cancer and breast cancer. 18191019 2008
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.050 AlteredExpression phenotype BEFREE Exogenous expression of wild-type RalGAP, but not the GAP activity-deficient mutant of RalGAP, suppressed migration and invasion of multiple PCa cell lines and was phenocopied by pharmacological inhibition of RalA/B. 31058283 2019
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.020 Biomarker disease BEFREE Both diseases are caused by mutations of TSC1 or TSC2 (TSC is tuberous sclerosis complex) that impair GAP (GTPase-activating protein) activity of the TSC1-TSC2 complex for Rheb, leading to inappropriate activity of signalling downstream of mTORC1 (mTOR complex 1). mTOR inhibitors are already used in a variety of clinical settings including as immunosuppressants, anticancer agents and antiproliferative agents in drug-eluting coronary artery stents. 19143643 2009
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.020 GeneticVariation disease BEFREE Individuals with tuberous sclerosis complex (TSC) develop astrocytoma-like tumors resulting from mutations in the TSC2 protein, tuberin, which is hypothesized to function as a Rap1 GTPase activating protein (GAP). 12469204 2003
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 Biomarker disease BEFREE The GAP-f will build on existing efforts to maximise coordination and alignment of policy makers, research networks, regulatory agencies, funding organisations, and manufacturers in paediatric HIV and other paediatric diseases, including tuberculosis, viral hepatitis, and other infectious diseases. 29739700 2018
CUI: C0040822
Disease: Tremor
Tremor 		0.010 AlteredExpression phenotype BEFREE The above results suggest that GAP promoter is more efficient than AOX1 promoter for the expression of angiostatin in P. pastoris by shake flask culture or high-density cell fermentation and is likely to be an alternative to AOX1 promoter in large-scale expression of angiostatin and other heterologous proteins. 16988811 2007
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.010 GeneticVariation disease BEFREE A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot. 22713807 2013
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		0.010 Biomarker phenotype BEFREE This suggests that HA117 might be an important resistance gene in pediatric solid tumors. 23619123 2014
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.020 GeneticVariation disease BEFREE To test this hypothesis, we screened a panel of SCLC and non-SCLC cell lines for major genetic alterations in the catalytic domain of the GAP gene with the Southern blot technique, and for minor genetic abnormalities (e.g., point mutations) with denaturing gradient gel electrophoresis and single-strand conformation polymorphism. 8270251 1994
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.020 Biomarker disease BEFREE The objective of this study was to investigate survival outcomes and treatment-related complications according to GAP (gender, age, and physiology) stage in patients having SCLC with IPF (SCLC-IPF). 31186636 2019
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 Biomarker group BEFREE Connexin26 (Cx26), a component of GAP junctions and until recently believed to be a tumor suppressor gene, has been shown to play an important role in lymphatic invasion as well as lymph node and distant metastases in squamous lung cancer and breast cancer. 18191019 2008
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 AlteredExpression disease BEFREE The positive expression of HA117 in NB was markedly higher than that in normal tissues (P=0.002), which closely associated with histologic type and lymph node metastasis (P=0.03 and 0.001). 23619123 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. 28991256 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Genome-wide association analysis to predict optimal antipsychotic dosage in schizophrenia: a pilot study. 26821981 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. 29483656 2018