Gene: POLG ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 11431686 2001
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease 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 		0.620 CausalMutation disease CLINVAR POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711 2004
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease 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 		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
Entrez Id: 5428
Gene Symbol: POLG
POLG 		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
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347 2005
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. 19501198 2009
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease 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 		0.620 CausalMutation disease CLINVAR Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. 19766516 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease 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 		0.620 CausalMutation disease CLINVAR Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene. 23430834 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. 21515089 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease 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 		0.620 CausalMutation disease CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 22006280 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease 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 		0.620 CausalMutation disease CLINVAR Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1). 21686371 2009
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease 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 		0.620 CausalMutation disease CLINVAR Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. 24272679 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.620 CausalMutation disease CLINVAR Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. 21235791 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		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