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 Biomarker BEFREE We have previously demonstrated allele loss in hamartomas from patients with tuberous sclerosis for markers spanning the tuberous sclerosis gene on chromosome 16q13.3 (TSC2). 7849709

1994

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 Biomarker BEFREE Major genes which cause tuberous sclerosis (TSC) and autosomal dominant polycystic kidney disease (ADPKD), known as TSC2 and PKD1 respectively, lie immediately adjacent to each other on chromosome 16p. 7894481

1994

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 AlteredExpression BEFREE This finding, coupled with the mild physical expression of TSC in some family members, supports a hypothesis that the TSC2 gene may present phenotypically as mild skin signs and significant behavioural problems. 7837252

1994

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 Biomarker BEFREE However, a number of patients with large deletions of the PKD1 and adjacent tuberous sclerosis 2 (TSC2) genes, who have tuberous sclerosis and severe childhood-onset polycystic kidney disease, have also been described. 8589278

1995

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis (TSC) is a heterogeneous multisystem disorder with loci on 9q34 (TSC1) and 16p13.3 (TSC2). 7552145

1995

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Tuberous sclerosis complex is an autosomal dominant disorder with loci on chromosome 9q34 (TSC1) and chromosome 16p13.3 (TSC2).The TSC2 gene has been isolated. 8634701

1995

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE Allelic loss or loss of heterozygosity (LOH) in TSC lesions has previously been reported on chromosomes 16p13 and 9q34, the locations of the TSC2 and TSC1 genes, respectively, suggesting that the TSC genes act as tumor-suppressor genes. 8755927

1996

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE To investigate the molecular mechanisms of tuberous sclerosis (TSC) histopathologic lesions, we have tested for loss of heterozygosity the two TSC loci (TSC1 and TSC2) and seven tumor suppressor gene-containing regions (TP53, NF1, NF2, BRCA1, APC, VHL, and MLM) in 20 hamartomas from 18 TSC patients. 8824721

1996

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE TSC is genetically linked to two loci: TSC1 on chromosome 9q34 and TSC2 on 16p13.3. 8944308

1996

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 Biomarker BEFREE These results indicate the critical role of tuberin in the neuropathology of tuberous sclerosis. 9007104

1996

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE We have previously described in tuberous sclerosis (TSC) hamartomas the phenomenon of loss of heterozygosity (LOH) for DNA markers in the region of both the TSC2 gene on chromosome 16p13.3 and the TSC1 gene on 9q34. 8950679

1996

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 AlteredExpression BEFREE Visceral TSC2 expression was comparable in autopsy tissues from patients with and without TSC; TSC2 messenger RNA expression was most prominent in cells with a rapid mitotic rate and turnover, e.g., epithelia and lymphocytes, with central nervous system pyramidal cells and other neurons being an obvious exception, and/or in cells with important secretory/transport functions. 8933518

1996

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE A proportion of hamartomas from patients with TSC show loss of heterozygosity (LOH) for DNA markers in the region of either the TSC1 gene on chromosome 9q34 or the TSC2 gene on 16p13.3. 8566961

1996

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 Biomarker BEFREE In order to determine the contribution of tuberin to the development of mental retardation and seizures in patients with TS, we examined the expression of tuberin in adult and developing nervous system tissues. 9173918

1996

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE To our knowledge, this is the first report of a point mutation in the TSC2 gene in a familial case of tuberous sclerosis. 8825048

1996

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 Biomarker BEFREE The fact that both gangliogliomas and cortical tubers in tuberous sclerosis contain neuronal and astrocytic elements and may resemble each other histologically suggests that the TSC2 gene may be involved in the development of these tumors. 9210877

1997

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

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE TSC-determining loci have been mapped to chromosomes 9q34 (TSC1) and 16p13 (TSC2). 9242607

1997

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 Biomarker BEFREE Linkage to TSC2 was found for members of the maternal family with clinical features of TSC. 9394312

1997

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE These findings imply that loss-of-function mutations in TSC2 might lead to the development of highly vascularized tumors, subcortical tubers, and focal atrophy of the cerebellar cortex, which are features commonly associated with TSC. 9006320

1997

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 Biomarker BEFREE Major genes for tuberous sclerosis and autosomal dominant polycystic kidney disease, TSC2 and PKD1, respectively, lie adjacent to each other at chromosome 16p13.3, suggesting a role for PKD1 in the etiology of renal cystic disease in tuberous sclerosis. 9382094

1997

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 AlteredExpression BEFREE To determine whether TSC2 RNA and protein are reduced in astrocytomas from individuals without tuberous sclerosis, reverse transcriptase-polymerase chain reaction and immunoblotting analyses were performed on 49 adult astrocytomas, 10 pediatric astrocytomas, and 13 ependymomas. 9266734

1997

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE TSC exhibits locus heterogeneity: the TSC2 gene is located at 16p13.3 whilst the TSC1 gene, predicted to encode a novel protein termed hamartin, has recently been cloned from 9q34. 9328481

1997

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 Biomarker BEFREE The presence of a deletion involving both TSC2 and PKD1 genes should be considered in the clinical assessment of TSC children with an early-onset polycystic kidney disease, and more generally in all ADPKD patients who develop end-stage renal failure prior to the fourth or fifth decade of life. 9306341

1997

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
1.000 GeneticVariation BEFREE We analysed mRNA from 18 unrelated cases of TSC for TSC2 mutations using the protein truncation test (PTT). 9285776

1997