Gene: TSC2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 Biomarker disease BEFREE The function of the TSC2/Tsc2 gene product (called "tuberine" in the human case) is not yet understood, although it contains a short amino acid sequence homologous to the ras family GTPase-activating proteins (GAP3). 7559744 1995
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 Biomarker disease BEFREE This could indicate that TSC2 tumors are more likely than TSC1 tumors to require surgical resection or that TSC2 is more common than TSC1 in our patient population. 8755927 1996
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 GeneticVariation disease UNIPROT Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. 8824881 1996
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. 8824881 1996
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 GeneticVariation disease BEFREE Characterization of the 5' region of Tsc2 and TSC2 will facilitate studies of the regulation of the gene and its disregulation in tumorigenesis. 9250859 1997
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 Biomarker disease BEFREE Tuberin, the protein product of the tuberous sclerosis complex-2 (TSC2) tumor suppressor gene, has been shown to directly inhibit cell growth and is expressed at high levels in normal central nervous system neurons and astrocytes. 9266734 1997
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 GeneticVariation disease UNIPROT The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. 9302281 1997
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. 9302281 1997
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. 9328481 1997
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Deletion of 11 amino acids in tuberin associated with severe tuberous sclerosis phenotypes: evidence for a new essential domain in the first third of the protein. 9412784 1998
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 GeneticVariation disease UNIPROT Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. 9463313 1998
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. 9463313 1998
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. 9829910 1998
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 GeneticVariation disease UNIPROT Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. 9829910 1998
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. 9881533 1998
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 Biomarker disease GENOMICS_ENGLAND Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst. 10069705 1999
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 GeneticVariation disease UNIPROT Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst. 10069705 1999
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Germ-line mosaicism in tuberous sclerosis: how common? 10090883 1999
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 GeneticVariation disease UNIPROT Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. 10205261 1999
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. 10205261 1999
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 GeneticVariation disease CLINVAR Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. 10205261 1999
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online. 10215407 1998
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR High rate of mosaicism in tuberous sclerosis complex. 10330349 1999
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects. 10533066 1999
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.800 CausalMutation disease CLINVAR Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. 10533067 1999