TSC2, TSC complex subunit 2, 7249

N. diseases: 72; N. variants: 287
Disease: Seizures ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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