rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
22867869
2013
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.
22903760
2013
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
15595939
2005
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.
15963462
2005
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.
15024740
2004
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.
15340059
2004
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.
12271141
2002
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
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
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis.
11520734
2001
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.
10607950
2000
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
10533067
1999
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst.
10069705
1999
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.
10735580
1999
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
10570911
1999
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
10205261
1999
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
9829910
1998
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
10732801
1998
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
10732801
1998
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
9463313
1998
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.
9302281
1997
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
0.800
GeneticVariation
UNIPROT
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.
8824881
1996
rs45517393
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
TUBEROUS SCLEROSIS 2 (disorder)
T
0.800
CausalMutation
CLINVAR
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.
8824881
1996