Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 11431686

2001
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711

2004
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation 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
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation 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
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation 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
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347

2005
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. 19501198

2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. 18546343

2008
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. 19766516

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation 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
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. 21515089

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464

2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972

2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338

2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 22006280

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. 19813183

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1). 21686371

2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. 16024923

2005
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. 24272679

2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. 21235791

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 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