TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: Tuberous Sclerosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203631
rs118203631
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease:
Tuberous Sclerosis 		A 0.700 CausalMutation CLINVAR Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations. 29221145 2017
dbSNP: rs118203631
rs118203631
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease:
Tuberous Sclerosis 		A 0.700 CausalMutation CLINVAR Those include hamartin(R692X) and hamartin(R786X), stop mutants frequent in TSC patients and hamartin(H732Y) frequent in FCDIIb. 27425891 2016
dbSNP: rs118203631
rs118203631
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease:
Tuberous Sclerosis 		A 0.700 CausalMutation CLINVAR Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development. 27494029 2016
dbSNP: rs118203631
rs118203631
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease:
Tuberous Sclerosis 		A 0.700 CausalMutation CLINVAR Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature. 26231267 2015
dbSNP: rs118203631
rs118203631
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease:
Tuberous Sclerosis 		A 0.700 CausalMutation CLINVAR Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals. 24633152 2014
dbSNP: rs118203631
rs118203631
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease:
Tuberous Sclerosis 		A 0.700 CausalMutation CLINVAR Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction. 20547222 2010
dbSNP: rs118203631
rs118203631
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease:
Tuberous Sclerosis 		A 0.700 CausalMutation CLINVAR Missense mutations to the TSC1 gene cause tuberous sclerosis complex. 18830229 2009
dbSNP: rs118203631
rs118203631
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease:
Tuberous Sclerosis 		A 0.700 CausalMutation CLINVAR Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. 16981987 2006
dbSNP: rs118203631
rs118203631
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0041341
Disease:
Tuberous Sclerosis 		A 0.700 CausalMutation CLINVAR Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. 9242607 1997