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 Biomarker disease BEFREE This case reveals that although PKD1 and TSC2 are adjacent genes and there is likely cross-talk between the PKD1 and TSC2 signalling pathways regulating mTOR, having independent TSC2 and PKD1 mutations can give rise to a milder kidney phenotype than is typical in PKD1/TSC2-CGS cases. 26077033 2015
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. 26540169 2015
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation 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
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis. 24789117 2015
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. 25599672 2015
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 Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy. 25498131 2014
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Careful clinical observation continues to improve understanding of the phenotype in individuals with tuberous sclerosis complex. 25039834 2014
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. 24271014 2014
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 CLINVAR Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex. 22903760 2013
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. 22805177 2013
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported. 23389244 2013
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS. 23955302 2013
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex. 22903760 2013
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 GeneticVariation 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 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 Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex. 22490766 2012
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 GeneticVariation disease CLINVAR Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds. 21332470 2012
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Uterine angiosarcoma associated with lymphangioleiomyomatosis in a patient with tuberous sclerosis complex: an autopsy case report with immunohistochemical and genetic analysis. 22748302 2012
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds. 21332470 2012
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 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 Biomarker disease BEFREE Renal tumors derived from 2,3,5-tris-(glutathion-S-yl)hydroquinone (TGHQ)-treated Tsc-2(EK/+) rats, and null for tuberin, display elevated nuclear and cytosolic p27, with parallel increases in cytosolic cyclin D1 levels. 21693435 2011