POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Myoclonus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972 2016
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO? 22931735 2012
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464 2016
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. 18500570 2008
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. 24272679 2014
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. 22189570 2012
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711 2004
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338 2014
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome. 20691285 2011
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202 2011
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. 19813183 2010
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. 18546343 2008
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238 2017
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. 20138553 2010
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347 2005
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 11431686 2001
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. 23783014 2013
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy. 22342071 2012
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study. 19538466 2011
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 15917273 2005
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759 2013
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR POLG1 variations presenting as multiple sclerosis. 20837861 2010
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. 19766516 2010
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. 23448099 2013