TSC2, TSC complex subunit 2, 7249

N. diseases: 72; N. variants: 287
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		1.000 Biomarker disease CLINGEN The gene products hamartin and tuberin form the TSC complex that acts as GTPase-activating protein for Rheb and negatively regulates the mammalian target of rapamycin complex 1 (mTORC1). 27493206 2016
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		1.000 Biomarker disease CLINGEN Targeted NGS of the TSC1 and TSC2 loci is a suitable method to increase the yield of mutations identified in the TSC patient population. 25927202 2015
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		1.000 Biomarker disease CTD_human Two genes, TSC1 and TSC2, encoding the proteins hamartin and tuberin, respectively, have been identified as causing TSC. 21062901 2011
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		1.000 Biomarker disease CTD_human Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in one of two genes, TSC1 or TSC2, which encode the proteins hamartin and tuberin, respectively 123. 21345208 2011
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		1.000 Biomarker disease CLINGEN Tuberous sclerosis complex 2 (TSC2) regulates cell migration and polarity through activation of CDC42 and RAC1. 20530489 2010
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		1.000 Biomarker disease CTD_human Tuberous sclerosis complex (TSC) is an inherited disorder resulting from mutations in one of two genes, TSC1 (Hamartin) and TSC2 (Tuberin). 18345974 2008
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		1.000 Biomarker disease GENOMICS_ENGLAND Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 17304050 2007
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		1.000 Biomarker disease GENOMICS_ENGLAND In the present study, 68 unrelated patients with confirmed clinical manifestations of TSC were tested for mutations in the TSC1 and TSC2 genes. 12111193 2002
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		1.000 Biomarker disease CTD_human Our laboratory has undertaken the complete mutation analysis of the TSC2 gene in 42 TSC families using single-strand conformation polymorphism analysis and reverse transcription-polymerase chain reaction. 10732801 1998
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		1.000 Biomarker disease CLINGEN Inactivating germline mutations of TSC2 in patients with tuberous sclerosis and somatic loss of heterozygosity at the TSC2 locus in the associated hamartomas indicate that TSC2 functions as a tumour suppressor gene and that loss of function is critical to expression of the tuberous sclerosis phenotype. 9302281 1997
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		1.000 Biomarker disease CLINGEN Transgenic rescue from embryonic lethality and renal carcinogenesis in the Eker rat model by introduction of a wild-type Tsc2 gene. 9108092 1997
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		1.000 Biomarker disease CLINGEN We have analyzed the distribution of TSC2 mRNA and tuberin in the brains of TSC patients and non-affected individuals using both autopsy and biopsy material. 8944308 1996
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		1.000 Biomarker disease CLINGEN Molecular genetic basis of renal carcinogenesis in the Eker rat model of tuberous sclerosis (Tsc2). 7546221 1995
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		1.000 Biomarker disease CLINGEN Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene. 7972075 1994
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		1.000 Biomarker disease GENOMICS_ENGLAND
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 Biomarker disease GENOMICS_ENGLAND Tuberous Sclerosis Complex: State-of-the-Art Review with a Focus on Pulmonary Involvement. 26104489 2015
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.800 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.800 SomaticCausalMutation disease ORPHANET Pulmonary lymphangioleiomyomatosis (LAM): progress and current challenges. 17541983 2008
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. 17304050 2007
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation disease UNIPROT Phosphorylation and binding partner analysis of the TSC1-TSC2 complex. 15963462 2005
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation disease UNIPROT Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex. 15595939 2005
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation disease UNIPROT Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity. 15340059 2004
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 GeneticVariation disease UNIPROT Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation. 15024740 2004