Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
TUBEROUS SCLEROSIS 2 (disorder)
|
0.700 | GeneticVariation | UNIPROT | Phosphorylation and binding partner analysis of the TSC1-TSC2 complex. | 15963462 | 2005 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.700 | GeneticVariation | UNIPROT | Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex. | 15595939 | 2005 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.700 | GeneticVariation | UNIPROT | Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity. | 15340059 | 2004 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.700 | GeneticVariation | UNIPROT | Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation. | 15024740 | 2004 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.700 | GeneticVariation | UNIPROT | Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. | 12271141 | 2002 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.700 | 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 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.700 | 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 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.700 | GeneticVariation | UNIPROT | Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. | 10205261 | 1999 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.700 | GeneticVariation | UNIPROT | Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. | 10570911 | 1999 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.700 | GeneticVariation | UNIPROT | Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. | 10533067 | 1999 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.700 | GeneticVariation | UNIPROT | Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst. | 10069705 | 1999 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.700 | GeneticVariation | UNIPROT | Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. | 9463313 | 1998 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.700 | GeneticVariation | UNIPROT | Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. | 10732801 | 1998 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.700 | GeneticVariation | UNIPROT | Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. | 9829910 | 1998 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.700 | 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 | |||||
TUBEROUS SCLEROSIS 2 (disorder)
|
0.700 | GeneticVariation | UNIPROT | Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. | 8824881 | 1996 |