Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 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: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711

2004
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation. 18783964

2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR To review our clinical experience and determine if there are appropriate signs and symptoms to consider POLG sequencing prior to valproic acid (VPA) dosing in patients with seizures. 20138553

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity. 19364868

2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations. 29474836

2019
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. 18294203

2008
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. 16401742

2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347

2005
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. 18195151

2008
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. 19766516

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene. 23430834

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 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: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 12825077

2003
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 22006280

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. 16368709

2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 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: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]. 20576279

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. 14635118

2003
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR Propofol-related infusion syndrome heralding a mitochondrial disease: case report. 23873972

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338

2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation 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
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe. 20803511

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. 23665194

2013