POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Liver Failure, Acute ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 GeneticVariation disease BEFREE Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation. 25065347 2014
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 GeneticVariation disease BEFREE The two subjects with heterozygous variants of unknown clinical significance in POLG and DGUOK developed ALF following drug exposure. 27483465 2016
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347 2005
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. 18500570 2008
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 15917273 2005
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. 16368709 2006
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene. 23430834 2011
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease 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: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease 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: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759 2013
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. 23448099 2013
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. 18546343 2008
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202 2011
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease. 29588995 2018
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. 21993618 2012
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. 23783014 2013
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR POLG1 variations presenting as multiple sclerosis. 20837861 2010
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. 22189570 2012
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 11431686 2001
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. 24272679 2014
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464 2016
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. 21515089 2011
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1). 21686371 2009
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972 2016
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.130 CausalMutation disease CLINVAR POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome. 20691285 2011