YARS2, tyrosyl-tRNA synthetase 2, 51067

N. diseases: 55; N. variants: 19
Disease: Multifocal epileptiform discharges ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		0.100 CausalMutation phenotype CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		0.100 CausalMutation phenotype CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016