TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: TUBEROUS SCLEROSIS 2 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 Biomarker disease BEFREE We showed that GBE treatment induced an increase of phosphorylated IGF1R (Tyr1135/Tyr1136), Akt (Ser473), TSC2 (Ser939), mTOR (Ser2448), PTEN (Ser380) and GSK3β (Ser9). 31790465 2019
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation disease BEFREE Previously reported "in vitro" experiments with mouse 3T3 fibroblasts demonstrated oncogenic potential of PIK3CB p.D1067V and mTOR p.L2209V mutants; whereas, PolyPhen-2 software analysis predicted TSC2 p.K347R mutation to likely have a damaging impact on tuberin function. 28777148 2019
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation disease BEFREE Homozygous knock-in mice that express a phosphorylation-silencing mutation in TSC2 (TSC2(S1365A)) develop worse heart disease and have higher mortality after sustained pressure overload of the heart, owing to mTORC1 hyperactivity that cannot be rescued by PKG1 stimulation. 30700906 2019
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 CausalMutation disease CLINVAR Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings. 29926239 2018
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 CausalMutation disease CLINVAR Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex. 28127866 2017
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 Biomarker disease BEFREE Employing a transient transfection-based approach to rescue TSC2 function in muscles of the iTSC2KO mice, we demonstrated that these phosphorylation sites are required for the role that TSC2 plays in the EC-induced activation of mTOR signaling. 28289099 2017
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation disease CLINVAR Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex. 27859028 2017
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 CausalMutation disease CLINVAR Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China. 28065512 2017
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 Biomarker disease BEFREE As a model for mTORC1 activation we used gene suppression of its physiological inhibitor TSC2 (TSC2sh). 28969371 2017
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 CausalMutation disease CLINVAR Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis. 28968464 2017
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 CausalMutation disease CLINVAR Multifocal micronodular pneumocyte hyperplasia (MMPH) in a patient with tuberous sclerosis-evidence for long term stability. 28149746 2017
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 CausalMutation disease CLINVAR Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex. 28087349 2017
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel. 29056246 2017
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 CausalMutation disease CLINVAR Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece. 29196670 2017
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 CausalMutation disease CLINVAR Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex. 27859028 2017
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 CausalMutation disease CLINVAR Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis. 26703369 2016
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 CausalMutation disease CLINVAR mTORC1-mediated downregulation of COX2 restrains tumor growth caused by TSC2 deficiency. 27078846 2016
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 CausalMutation disease CLINVAR Comparison of Color Fundus Photography, Infrared Fundus Photography, and Optical Coherence Tomography in Detecting Retinal Hamartoma in Patients with Tuberous Sclerosis Complex. 27174333 2016
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation disease BEFREE Has mother has a tuberous sclerosis 2 (TSC 2) gene abnormality and a diagnosis of tuberous sclerosis. 27174083 2016
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 Biomarker disease BEFREE Similar changes are observed in Raf kinases following TGHQ-mediated transformation of primary renal epithelial cells derived from Tsc-2(EK/+) rats (QTRRE cells), cells that are also null for tuberin. 26333016 2016
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 CausalMutation disease CLINVAR A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. 25432535 2015
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 CausalMutation disease CLINVAR Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations. 25927202 2015
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Tuberous Sclerosis Complex: State-of-the-Art Review with a Focus on Pulmonary Involvement. 26104489 2015
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation disease CLINVAR Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. 25782670 2015
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 CausalMutation disease CLINVAR TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex. 25900779 2015