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 GeneticVariation phenotype BEFREE With exception of ataxia and myoclonus, movement disorders are not typical features of POLG1 associated disorders. 18546343 2008
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 GeneticVariation phenotype BEFREE Although parkinsonism is more frequent in POLG1 mutations, and myoclonus in MERFF, most movement disorders are found either isolated or combined in numerous MIDs. 27476418 2017
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 Biomarker phenotype HPO
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 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