POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations. 29474836 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. 28771251 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype 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: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation. 26755490 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease. 25585994 2015
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease. 25286830 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. 24272679 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation phenotype CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. 23448099 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation phenotype CLINVAR Propofol-related infusion syndrome heralding a mitochondrial disease: case report. 23873972 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. 23665194 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation phenotype CLINVAR Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients. 23208208 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR An informatics approach to analyzing the incidentalome. 22995991 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation phenotype CLINVAR Universal heteroplasmy of human mitochondrial DNA. 23077218 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected]. 23446635 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. 23783014 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.430 Biomarker phenotype BEFREE Compared to POLG1(-) patients, the POLG1(+) patients more frequently had seizures at onset, which often became refractory. 22237560 2012
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation phenotype CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. 21993618 2012