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) is a multiorgan genetic disease caused by mutations in the TSC1 or TSC2 genes. 20087180

2010

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 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: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome caused by mutations in TSC1 and TSC2. 20165957

2010

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

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE TSC is caused by inactivating mutations in either of the genes encoding the proteins hamartin (TSC1) and tuberin (TSC2). 21419848

2011

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is an autosomal dominant disorder, caused due to mutations in the TSC1 and TSC2 genes. 21541650

2012

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 or TSC2 genes. 22161988

2012

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis complex is caused by mutations in either the tuberous sclerosis complex 1 or 2 gene (coding for hamartin and tuberin, respectively). 22520346

2012

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE TSC is caused by mutations in either the TSC1 (chromosome 9q34) or TSC2 (chromosome 16p.13.3) genes. 22544507

2012

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis (TSC) is a neurocutaneous disorder with an autosomal-dominant pattern of inheritance and is caused by heterozygous mutations in the TSC1 or TSC2 gene. 22626986

2013

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis complex (TSC), an inherited tumor predisposition syndrome associated with mutations in TSC1 or TSC2, affects ∼1 in 6,000 individuals. 22791333

2012

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in either the TSC1 or TSC2 genes and characterized by developmental brain abnormalities. 22805177

2013

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is caused by a mutation of either the Tsc1 or Tsc2 gene. 22848848

2012

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous Sclerosis Complex (TSC) is an often severe neurodevelopmental disorder caused by overactivation of the mTOR pathway due to mutations in either the TSC1 or TSC2 genes. 23845174

2013

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis (TS) is caused by mutation of the tumor suppressor genes, tuberous sclerosis complex 1 (TSC1) or 2 (TSC2). 23846400

2013

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is caused by a mutation in the TSC1 or TSC2 genes. 23909698

2014

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is caused by mutations in TSC1 or TSC2 genes. 24606538

2014

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is a multisystem genetic disorder caused by mutations in the TSC1 and TSC2 genes. 25452577

2016

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis complex (TSC), a heterodimer of TSC1 and TSC2, functions as a negative regulator of mTOR signaling. 25724664

2015

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is a genetic disease resulting from mutation in TSC1 or TSC2 and subsequent hyperactivation of mammalian Target of Rapamycin (mTOR). 26220190

2015

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. 27226234

2016

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is a neurodevelopmental disease caused by TSC1 or TSC2 mutations and subsequent activation of the mTORC1 kinase. 27760312

2016

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis (TSC) is an inherited tumor syndrome caused by mutations in TSC1 or TSC2 that lead to aberrant activation of mTOR and development of tumors in multiple organs including the kidneys. 28092822

2017

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis complex (TSC) is due to pathogenic variants in TSC1 or TSC2 genes resulting in hyperactivation of the mTOR pathway. 28488386

2017