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 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 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 POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. 20138553

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR POLG1 variations presenting as multiple sclerosis. 20837861

2010
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 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 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 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 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 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: 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 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 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: 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 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 11431686

2001