TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: Generalized seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.310 Biomarker disease CTD_human Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400 2017
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.310 GeneticVariation disease BEFREE We report the case of an inaugural episode of generalized seizures in a 40-year-old male with a history of chronic kidney disease associated with TSC2-PKD1 contiguous gene syndrome. 23738537 2013
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.310 Biomarker disease CTD_human Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex. 21062901 2011