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 Biomarker phenotype HPO
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 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711 2004
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 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 The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. 16024923 2005
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. 16368709 2006
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 Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. 18546343 2008
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 CausalMutation phenotype CLINVAR De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. 19501198 2009
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1). 21686371 2009
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation. 18783964 2009
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 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 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 [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]. 20576279 2010
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
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 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 Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. 21515089 2011
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 22006280 2011
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation phenotype CLINVAR Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene. 23430834 2011