POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Balo's Concentric Sclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004712
Disease: Balo's Concentric Sclerosis
Balo's Concentric Sclerosis 		0.300 Biomarker disease CTD_human POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. 20138553 2010
CUI: C0004712
Disease: Balo's Concentric Sclerosis
Balo's Concentric Sclerosis 		0.300 Biomarker disease CTD_human Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma. 18716558 2008
CUI: C0004712
Disease: Balo's Concentric Sclerosis
Balo's Concentric Sclerosis 		0.300 Biomarker disease CTD_human Alpers syndrome with prominent white matter changes. 17923349 2008