Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.480 Biomarker phenotype CTD_human Furthermore, in utero CRISPR-Cas9-mediated genome editing of Tsc1 or Tsc2 induced the development of spontaneous behavioral seizures, as well as cytomegalic neurons and cortical dyslamination. 28215400 2017
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.480 GeneticVariation phenotype BEFREE Evidence from experimental research shows that encephalopathy in TSC might have a genetic cause, and mTOR activation caused by TSC gene mutation can be directly responsible for the early appearance of seizures and encephalopathy. 26758984 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.480 Biomarker phenotype BEFREE Accordingly, specific GluN2C/D antagonists block seizures in Tsc1(+/-) mice in vivo and in vitro. 25081057 2015
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.480 CausalMutation phenotype CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.480 Biomarker phenotype BEFREE Here we demonstrate that autophagy is suppressed in brain tissues of forebrain-specific conditional TSC1 and phosphatase and tensin homlog knock-out mice, both of which display aberrant mTOR activation and seizures. 23136410 2013
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.480 GeneticVariation phenotype BEFREE In contrast, NMI patients had a lower incidence of seizures than TSC patients with TSC1 mutations, but had a higher incidence of both renal angiomyolipomas and pulmonary lymphangioleiomyomatosis. 19133941 2009
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.480 GeneticVariation phenotype BEFREE As a group, patients with a TSC2 mutation had earlier age at seizure onset, lower cognition index, more tubers, and a greater TBP than those with a TSC1 mutation, but the ranges overlapped considerably. 18032745 2008
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.480 GeneticVariation phenotype BEFREE TSC1 mutations seem to cause a milder disease with fewer cortical tubers and lower frequency of seizures. 11579436 2001
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.480 GeneticVariation phenotype BEFREE In families with mutations, all individuals carrying a mutation met formal diagnostic criteria for TSC, apart from a 3-year-old girl who had inherited a deletion mutation, and who had no seizures, normal intelligence, normal abdominal ultrasound, and hypomelanotic macules only on physical exam. 9924605 1999
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.480 Biomarker phenotype BEFREE The mechanism underlying the association of autism and TSC is as yet unclear but clinical features and neuroimaging investigations suggest that an abnormal TSC gene may directly influence the development of autism rather than it being a secondary effect of seizures or MR. 9813776 1999
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.480 Biomarker phenotype HPO