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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. 19766516

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR An informatics approach to analyzing the incidentalome. 22995991

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR MELAS/SANDO overlap syndrome associated with POLG1 mutations. 21647632

2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711

2004
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464

2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. 19501198

2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 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: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 22006280

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 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
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.110 CausalMutation CLINVAR Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. 23448099

2013