Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex. 25281918 2014
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Giant angiofibromas in tuberous sclerosis complex: a possible role for localized lymphedema in their pathogenesis. 22552000 2012
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations. 10607950 2000
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects. 10533066 1999
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex. 28127866 2017
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 Biomarker disease BEFREE This could indicate that TSC2 tumors are more likely than TSC1 tumors to require surgical resection or that TSC2 is more common than TSC1 in our patient population. 8755927 1996
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 AlteredExpression disease BEFREE During the period of acute hepatitis (16-17 weeks), we observed decreased Nth1 and Tsc2 mRNA levels and a continued decrease of the Tsc2 gene in 24 weeks in LEC rats, while the effect was minimal in Long-Evans Agouti (LEA) rats. 20033472 2010
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. 21309039 2011
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. 9829910 1998
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		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
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		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
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis. 10942116 2000
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 GeneticVariation disease UNIPROT Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. 9463313 1998
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase. 16464865 2006
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869 2013
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 GeneticVariation disease UNIPROT Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. 10732801 1998
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. 15798777 2005
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 GeneticVariation disease CLINVAR Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex. 27859028 2017
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR High-resolution melting analysis is a more effective approach for screening TSC genes mutations. 21510812 2011
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR 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 		0.800 CausalMutation disease CLINVAR Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China. 28065512 2017
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 Biomarker disease BEFREE As a model for mTORC1 activation we used gene suppression of its physiological inhibitor TSC2 (TSC2sh). 28969371 2017
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 17304050 2007
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. 20165957 2010
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis. 11208653 2001