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 Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238

2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. 22189570

2012
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 An informatics approach to analyzing the incidentalome. 22995991

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR MELAS/SANDO overlap syndrome associated with POLG1 mutations. 21647632

2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation 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
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation 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
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation 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
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 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 POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome. 20691285

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.620 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. 21993618

2012
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 Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202

2011
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 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