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: C0036572
Disease: Seizures
Seizures 		0.430 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: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity. 19364868

2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR The unfolding clinical spectrum of POLG mutations. 19578034

2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. 19501198

2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. 20513108

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 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: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR POLG1 variations presenting as multiple sclerosis. 20837861

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR To review our clinical experience and determine if there are appropriate signs and symptoms to consider POLG sequencing prior to valproic acid (VPA) dosing in patients with seizures. 20138553

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. 19766516

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 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: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe. 20803511

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. 20185557

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 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: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts. 21138766

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 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: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Novel POLG splice site mutation and optic atrophy. 21670405

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 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: C0036572
Disease: Seizures
Seizures 		0.430 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: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 22006280

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 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
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 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: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. 20843780

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. 21993618

2012