Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is a tumor suppressor gene disorder characterized by mutations in the TSC1 or TSC2 genes. 16192644

2005

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 and TSC2 genes on chromosomes 9 and 16 respectively. 16700943

2006

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 AlteredExpression BEFREE Tuberous sclerosis complex (TSC) is a multiorgan genetic disease caused by inactivation of either the TSC1 or TSC2 genes. 16818174

2006

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE TSC is caused by mutations in the genes TSC1 and TSC2. 16877242

2006

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is associated with mutations in two likely tumor-suppressor genes (TSC1 and TSC2) and characterized by the development of tumor-like growths (angiofibromas) in a variety of tissues and organs, particularly brain and skin. 16965334

2006

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous sclerosis (TS), autosomal dominant disorder manifested by the formation of usually benign tumors in the brain, heart, kidneys and skin, results from an inactivating mutation in one of two tumor suppressor genes TSC1 or TSC2. 17071037

2007

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is a congenital syndrome characterized by the widespread development of benign tumors in multiple organs, caused by mutations in one of the tumor suppressor genes, TSC1 or TSC2. 17386056

2007

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous Sclerosis Complex (TSC) is a tumor suppressor gene disorder with mutations of TSC1/TSC2 genes. 17592551

2007

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 Biomarker 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

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is an inherited disorder resulting from mutations in one of two genes, TSC1 (Hamartin) and TSC2 (Tuberin). 18345974

2008

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder with variable phenotypic expression, due to a mutation in one of the two genes, TSC1 and TSC2, and a subsequent hyperactivation of the downstream mTOR pathway, resulting in increased cell growth and proliferation. 19028034

2009

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is a neurogenetic disorder caused by loss-of-function mutations in either the TSC1 or TSC2 genes and frequently results in prominent CNS manifestations, including epilepsy, mental retardation, and autism spectrum disorder. 19420259

2009

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is an autosomal-dominant disease that is caused by mutations in either the TSC1 or TSC2 gene. 19443708

2009

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is a genetic disorder linked to mutations of either the TSC1 or TSC2 gene, which encode proteins that form a complex to negatively regulate mammalian target of rapamycin complex 1 (mTORC1). 19692352

2009

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous sclerosis (TSC) is a multi-system disorder caused by heterozygous mutations in the TSC1 or TSC2 gene and is often associated with neuropsychiatric symptoms, including intellectual disability, specific neuropsychological deficits, autism, other behavioural disorders and epilepsy. 19694899

2009

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous sclerosis complex 1 (TSC1) inhibits mammalian target of rapamycin (mTOR), a central promotor of cell growth and proliferation. 20054236

2009

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is a multiorgan genetic disease caused by mutations in the TSC1 or TSC2 genes. 20087180

2010

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems. 20146692

2010

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is a genetic disorder with pleiotropic manifestations caused by heterozygous mutations in either TSC1 or TSC2. 20159776

2010

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome caused by mutations in TSC1 and TSC2. 20165957

2010

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous sclerosis (TSC) is a single-gene disorder caused by heterozygous mutations in the TSC1 or TSC2 gene. 20882401

2011

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is an autosomal dominant disease caused by mutations in either the TSC1 (encodes hamartin) or TSC2 (encodes tuberin) genes. 20959633

2011

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 GeneticVariation BEFREE Tuberous sclerosis (TSC) is a genetic disorder caused by heterozygous mutations in the TSC1 or TSC2 genes and is associated with autism spectrum disorders (ASD) in 20-60% of cases. 21115397

2011

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 Biomarker BEFREE Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by a combination of neurological symptoms and hamartomatous growths, and caused by mutations in the TSC1 and TSC2 genes. 21332470

2012

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.900 Biomarker 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