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: rs118203538
rs118203538
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.700 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs118203538
rs118203538
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.700 GeneticVariation UNIPROT Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. 22161988 2012
dbSNP: rs118203538
rs118203538
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.700 GeneticVariation UNIPROT Missense mutations to the TSC1 gene cause tuberous sclerosis complex. 18830229 2009
dbSNP: rs118203538
rs118203538
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.700 GeneticVariation UNIPROT Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. 11829138 2002
dbSNP: rs118203538
rs118203538
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.700 GeneticVariation UNIPROT Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE. 10874311 2000
dbSNP: rs118203538
rs118203538
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.700 GeneticVariation UNIPROT Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations. 10533069 1999
dbSNP: rs118203538
rs118203538
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.700 GeneticVariation UNIPROT Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. 10570911 1999
dbSNP: rs118203538
rs118203538
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.700 GeneticVariation UNIPROT Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. 10227394 1999
dbSNP: rs118203538
rs118203538
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C1854465
Disease:
TUBEROUS SCLEROSIS 1 (disorder) 		0.700 GeneticVariation UNIPROT Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. 9328481 1997