Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972

2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO? 22931735

2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464

2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. 18500570

2008
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. 24272679

2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. 22189570

2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711

2004
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338

2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome. 20691285

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. 19813183

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. 18546343

2008
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238

2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. 20138553

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347

2005
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 11431686

2001
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. 23783014

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation 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
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation 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
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 15917273

2005
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR POLG1 variations presenting as multiple sclerosis. 20837861

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. 19766516

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. 23448099

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.120 CausalMutation CLINVAR The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. 16024923

2005