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: rs45517179
rs45517179
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. 16981987 2006
dbSNP: rs45517179
rs45517179
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 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: rs45517179
rs45517179
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. 11112665 2001
dbSNP: rs45517179
rs45517179
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
dbSNP: rs45517179
rs45517179
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. 9463313 1998
dbSNP: rs45517179
rs45517179
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C1860707
Disease:
TUBEROUS SCLEROSIS 2 (disorder) 		T 0.700 CausalMutation CLINVAR Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. 8824881 1996