POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
0.400 Biomarker phenotype CTD_human POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. 20138553 2010
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
0.400 Biomarker phenotype CTD_human Mitochondrial DNA damage and the involvement of antioxidant defense and repair system in hippocampi of rats with chronic seizures. 20446108 2010
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
0.400 Biomarker phenotype HPO