Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) 1 or TSC2 is mutated in most TSC patients. 29129521

2018

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 Biomarker BEFREE After discovery of the two causative genes, TSC1 and TSC2, and the role of mammalian target of rapamycin (mTOR) regulation in the pathogenesis of TSC, an increasing number of clinical studies evaluating mTOR inhibition in TSC patients have shown impressive results in many organ manifestations, such as brain, lung, and kidney. 27585680

2018

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant. 29308833

2018

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is characterized by hamartomatous lesions in various organs and arises due to mutations in the TSC1 or TSC2 genes. 28993242

2018

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE To identify the TSC1 and TSC2 mutations in patients with tuberous sclerosis complex (TSC) associated with renal lesions, and to explore the relationship between genotypes and phenotypes. 28065512

2018

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 Biomarker BEFREE Urokinase-type plasminogen activator (uPA) is critical for progression of tuberous sclerosis complex 2 (TSC2)-deficient tumors. 28972182

2018

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Pediatric renal cell carcinoma (RCC) is a rare cancer that can be associated with inherited diseases including tuberous sclerosis complex (TSC) caused by germline mutations in TSC1 or TSC2. 27748010

2017

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 Biomarker BEFREE 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

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex. 28127866

2017

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 Biomarker BEFREE Next-generation sequencing of TSC1 and TSC2 genes was performed in a proband affected by TSC and KC. 29261847

2017

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex. 28178598

2017

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Cerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study. 28786492

2017

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex. 28211972

2017

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis. 28968464

2017

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE TSC1 and TSC2 are genes mutated in the syndrome TSC (tuberous sclerosis complex). 28336152

2017

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Furthermore, BEX2 was also increased in the liver of a hepatic specific Pten knock-out mouse and the kidneys of Tsc2 heterozygous deletion mice, and a patient with tuberous sclerosis complex (TSC). mTOR up-regulation of BEX2 was mediated in parallel by both STAT3 and NF-κB. 26296882

2016

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis. 26703369

2016

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins. 26408672

2016

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 Biomarker BEFREE Here, we investigated the role of HMGA2 in the pathogenesis of TSC using the TSC2(+/-) mouse model that similarly mirrors human disease and human tumor samples. 26837766

2016

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Mutations in the TSC1 and TSC2 genes that cause tuberous sclerosis lead to hyperactivation of signaling via the mammalian target of rapamycin complex 1 (mTORC1). 26060906

2016

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 Biomarker BEFREE Malfunctional tsc1/tsc2 genes leave mTOR uninhibited, a positive downstream modulator of the innate proinflammatory immune system, which has not yet been described in pediatric patients with TSC. 26356487

2016

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE TSC is caused by a germline heterozygous mutation in either TSC1 or TSC2, and TSC-LAM is thought to occur as a result of a somatic mutation (second hit) in addition to a germline mutation in TSC1 or TSC2 (first hit). 26563443

2016

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Rheb is a small GTP-binding protein and its GTPase activity is activated by the complex of Tsc1 and Tsc2 whose mutations cause tuberous sclerosis complex (TSC). 25880340

2016

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE We determined that the abundance of tuberous sclerosis complex 2 (TSC2), an mTOR inhibitor, was increased through a transcriptional mechanism in cardiomyocytes when class I HDACs were inhibited. 27048565

2016

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 Biomarker BEFREE These results show that PAK2 is a direct effector of TSC1-TSC2-RHEB signaling and a new target for rational drug therapy in TSC. 26412398

2016