TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: TUBEROUS SCLEROSIS 1 (disorder) ×
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: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		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: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		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: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		A 0.700 CausalMutation CLINVAR Leydig cell tumor of the testis in tuberous sclerosis: lack of second hit events. 22707517 2012
dbSNP: rs118203631
rs118203631
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		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: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		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: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		A 0.700 CausalMutation CLINVAR Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. 16114042 2005
dbSNP: rs118203631
rs118203631
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		A 0.700 CausalMutation CLINVAR Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. 10227394 1999
dbSNP: rs118203631
rs118203631
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		A 0.700 CausalMutation CLINVAR Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. 10533067 1999
dbSNP: rs118203631
rs118203631
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		A 0.700 CausalMutation CLINVAR Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE. 10363127 1998
dbSNP: rs118203631
rs118203631
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		A 0.700 CausalMutation CLINVAR Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. 9242607 1997