Source: CLINGEN

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 Biomarker CLINGEN Those include hamartin(R692X) and hamartin(R786X), stop mutants frequent in TSC patients and hamartin(H732Y) frequent in FCDIIb. 27425891

2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.900 Biomarker CLINGEN Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in either the TSC1 or the TSC2 genes and characterized by the development of benign hamartomatous growths in multiple organ systems. 15888477

2005
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.900 Biomarker CLINGEN This suggests that the cell lines and cultures studied may serve as useful in vitro models for biochemical investigations involving hamartin and tuberin both individually and as a complex, as well as studies to elucidate the mechanisms underlying the organ-specific pathology of TSC. 11170177

2001
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.900 Biomarker CLINGEN By Western blot analysis, hamartin is strongly expressed in brain, kidney, and heart, all of which are frequently affected in TSC. 10349994

1999
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.900 Biomarker CLINGEN From these data we estimate that TSC1 mutations accounted for 24% of the cases in this sample (and an estimated 22% of all TSC cases). 9863590

1998
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.900 Biomarker CLINGEN TSC-determining loci have been mapped to chromosomes 9q34 (TSC1) and 16p13 (TSC2). 9242607

1997