Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR POLG1 variations presenting as multiple sclerosis. 20837861 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. 21515089 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation. 26755490 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype 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 		0.430 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
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711 2004
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 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
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype 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 		0.430 CausalMutation phenotype CLINVAR Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations. 29474836 2019
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype 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 		0.430 CausalMutation phenotype 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 		0.430 CausalMutation phenotype CLINVAR Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347 2005
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. 18195151 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. 19766516 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene. 23430834 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype 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 		0.430 CausalMutation phenotype CLINVAR Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 12825077 2003
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 22006280 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype 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 		0.430 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
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype 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 		0.430 CausalMutation phenotype CLINVAR POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. 14635118 2003
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG 		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