rs45486196, TSC2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. 21309039 2011
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: 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)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
0.700 GeneticVariation UNIPROT Phosphorylation and binding partner analysis of the TSC1-TSC2 complex. 15963462 2005
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex. 15483652 2005
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: 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)
CUI: C1860707
Disease: 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)
CUI: C1860707
Disease: 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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex. 11741832 2001
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: 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)
CUI: C1860707
Disease: 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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. 10205261 1999
TUBEROUS SCLEROSIS 2 (disorder)
CUI: C1860707
Disease: 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)
CUI: C1860707
Disease: 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)
CUI: C1860707
Disease: 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)
CUI: C1860707
Disease: 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)
CUI: C1860707
Disease: 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)
CUI: C1860707
Disease: 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)
CUI: C1860707
Disease: 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)
CUI: C1860707
Disease: 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)
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
0.700 GeneticVariation UNIPROT Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. 8824881 1996