TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.500 GeneticVariation phenotype BEFREE In a well-characterized patient population with standardized assessment of multiple aspects of development, we found that having a TSC2 pathogenic variant was associated with significantly lower Mullen Scales of Early Learning scores at age 24 months, independent of seizures. 31005478 2019
CUI: C0036572
Disease: Seizures
Seizures
0.500 GeneticVariation phenotype BEFREE TSC2 mutations are more frequently associated with worse outcomes, earlier age at seizure onset, more severe intellectual disability, and higher tuber load than TSC1. 29129521 2018
CUI: C0036572
Disease: Seizures
Seizures
0.500 GeneticVariation phenotype BEFREE The results showed that patients with TSC2 mutations had a higher frequency of mental retardation and there were no significant differences of seizures and skin lesions with TSC1 mutations. 29740858 2018
CUI: C0036572
Disease: Seizures
Seizures
0.500 Biomarker phenotype BEFREE A genetic testing of the genes TSC1 and TSC2 was performed in 14 children.The earliest manifestations of TSC were skin lesions (80% of patients) and seizures (75%). 28623545 2017
CUI: C0036572
Disease: Seizures
Seizures
0.500 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
CUI: C0036572
Disease: Seizures
Seizures
0.500 Biomarker phenotype BEFREE 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
CUI: C0036572
Disease: Seizures
Seizures
0.500 GeneticVariation phenotype BEFREE This review confirms that patients with TSC2 mutations considered as a group usually present a more severe phenotype, characterized by higher number of tubers, earlier age at seizure onset and higher prevalence of intellectual disability. 26706013 2015
CUI: C0036572
Disease: Seizures
Seizures
0.500 GeneticVariation phenotype BEFREE Here, we report two novel mutations in the TSC2 gene, including a splicing mutation (IVS 29 +1G>C) in intron 29 and a deletion/insertion mutation (C.5090-5092delCCA- inAG) in exon 39 in two Chinese Han children with TSC whose first clinical manifestation was seizure. 24737435 2014
CUI: C0036572
Disease: Seizures
Seizures
0.500 GeneticVariation phenotype BEFREE Phenytoin-associated severe hypocalcemia with seizures in a patient with a TSC2-PKD1 contiguous gene syndrome. 23738537 2013
CUI: C0036572
Disease: Seizures
Seizures
0.500 Biomarker phenotype BEFREE Here we used the Tsc2 (+/-) (Eker) rat model of TSC and an experimental epilepsy paradigm to study the causal effect of seizures on learning and memory and social behavior phenotypes. 20927644 2011
CUI: C0036572
Disease: Seizures
Seizures
0.500 Biomarker phenotype CTD_human However, Tsc2(GFAP1)CKO mice had an earlier onset and higher frequency of seizures, as well as significantly more severe histological abnormalities, compared with Tsc1(GFAP1)CKO mice. 21062901 2011
CUI: C0036572
Disease: Seizures
Seizures
0.500 GeneticVariation phenotype BEFREE Patients with a truncating TSC1 or TSC2 mutation differed from those with nontruncating mutations in seizure types only. 18032745 2008
CUI: C0036572
Disease: Seizures
Seizures
0.500 GeneticVariation phenotype BEFREE Cognitive outcome was strongly associated with refractory seizures and TSC2 mutation. 17200495 2007
CUI: C0036572
Disease: Seizures
Seizures
0.500 GeneticVariation phenotype BEFREE Mutational analysis of TSC2 indicated the presence of the novel missense change 3106T-->C, 1036S-->P in all family members with seizures. 12913212 2003
CUI: C0036572
Disease: Seizures
Seizures
0.500 Biomarker phenotype BEFREE Further characterization of the roles of hamartin and tuberin will provide potential therapeutic avenues to treat seizures, mental retardation, and tumor growth in TSC. 10534239 1999
CUI: C0036572
Disease: Seizures
Seizures
0.500 Biomarker phenotype BEFREE In order to determine the contribution of tuberin to the development of mental retardation and seizures in patients with TS, we examined the expression of tuberin in adult and developing nervous system tissues. 9173918 1996
CUI: C0036572
Disease: Seizures
Seizures
0.500 Biomarker phenotype HPO