TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203478
rs118203478
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CA 0.700 CausalMutation CLINVAR Multiple pulmonary artery aneurysms in tuberous sclerosis complex. 23341583 2013
dbSNP: rs118203478
rs118203478
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CA 0.700 CausalMutation CLINVAR Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. 10570911 1999
dbSNP: rs118203478
rs118203478
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CA 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