IDH2, isocitrate dehydrogenase (NADP(+)) 2, 3418

N. diseases: 380; N. variants: 15
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.440 GeneticVariation phenotype BEFREE The probability of seizure reduction > 50% was significantly associated with the presence of an IDH mutation. 31556015 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.440 GeneticVariation phenotype BEFREE Patients with grade II gliomas showed a higher rate of IDH1 and IDH2 mutations and seizures than patients with grade III and IV gliomas. 29288860 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.440 GeneticVariation phenotype BEFREE Among the WHO grade II and III gliomas, IDH1 mutations were significantly associated with preoperative seizures, but no significant relationship between IDH mutations and preoperative seizures was found with glioblastoma multiforme. 27406953 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.440 Biomarker phenotype CTD_human A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model. 27469509 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.440 GeneticVariation phenotype BEFREE Seizure as the initial symptom is associated with IDH1 or IDH2 mutation. 22217666 2012
CUI: C0036572
Disease: Seizures
Seizures 		0.440 Biomarker phenotype HPO