TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: TUBEROUS SCLEROSIS 2 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45517222
rs45517222
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex. 25281918 2014
dbSNP: rs45517222
rs45517222
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR Giant angiofibromas in tuberous sclerosis complex: a possible role for localized lymphedema in their pathogenesis. 22552000 2012
dbSNP: rs45517222
rs45517222
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2. 10735580 1999
dbSNP: rs45517222
rs45517222
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. 10205261 1999