Gene: POLG ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.120 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
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.120 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
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.120 CausalMutation phenotype CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.120 GeneticVariation phenotype BEFREE Although parkinsonism is more frequent in POLG1 mutations, and myoclonus in MERFF, most movement disorders are found either isolated or combined in numerous MIDs. 27476418 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.120 CausalMutation phenotype CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.120 CausalMutation phenotype CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.120 CausalMutation phenotype CLINVAR Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. 24272679 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.120 CausalMutation phenotype CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.120 CausalMutation phenotype CLINVAR Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease. 25286830 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.120 CausalMutation phenotype 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 		0.120 CausalMutation phenotype CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.120 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 		0.120 CausalMutation phenotype CLINVAR An informatics approach to analyzing the incidentalome. 22995991 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.120 CausalMutation phenotype 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 		0.120 CausalMutation phenotype CLINVAR Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. 22189570 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.120 CausalMutation phenotype 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 		0.120 CausalMutation phenotype CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. 21993618 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.120 CausalMutation phenotype CLINVAR MELAS/SANDO overlap syndrome associated with POLG1 mutations. 21647632 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.120 CausalMutation phenotype 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 		0.120 CausalMutation phenotype CLINVAR Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.120 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 		0.120 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 		0.120 CausalMutation phenotype CLINVAR Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 22006280 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.120 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 		0.120 CausalMutation phenotype CLINVAR Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. 21235791 2011