POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Bipolar Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease 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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 GeneticVariation disease BEFREE Although the frequency of carriers of deleterious variants varied from one method to another, every assessment achieved the same conclusion that deleterious POLG1 variants were significantly enriched in the variants identified in patients with bipolar disorder compared to those in controls. 27987238 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464 2016
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972 2016
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease. 25286830 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. 24272679 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR An informatics approach to analyzing the incidentalome. 22995991 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. 23783014 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. 23448099 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease 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
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO? 22931735 2012
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. 22189570 2012
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR MELAS/SANDO overlap syndrome associated with POLG1 mutations. 21647632 2012
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. 21993618 2012
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene. 23430834 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. 21515089 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 22006280 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. 21235791 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 Biomarker disease PSYGENET This study was the first to suggest a possible role of gene expression analysis of ANK3, RASGRP1 and POLG1 in the LCLs as potential biomarkers of BD. 21866111 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 Biomarker disease BEFREE This study was the first to suggest a possible role of gene expression analysis of ANK3, RASGRP1 and POLG1 in the LCLs as potential biomarkers of BD. 21866111 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation disease CLINVAR POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome. 20691285 2011