POLG, DNA polymerase gamma, catalytic subunit, 5428
N. diseases: 462; N. variants: 173
Source: ALL
Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | CausalMutation | CLINVAR | POLG mutation presenting with late-onset jerky torticollis. | 23212759 | 2013 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. | 22616202 | 2011 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO? | 22931735 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1). | 21686371 | 2009 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. | 24725338 | 2014 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. | 20818383 | 2010 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]. | 20576279 | 2010 | ||||||
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T | 0.700 | 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 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. | 22189570 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. | 11431686 | 2001 | ||||||
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T | 0.700 | 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 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. | 20138553 | 2010 | ||||||
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T | 0.700 | 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 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. | 21993618 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. | 26735972 | 2016 | ||||||
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T | 0.700 | CausalMutation | 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 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. | 16024923 | 2005 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. | 24272679 | 2014 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. | 15824347 | 2005 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. | 21515089 | 2011 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease. | 25286830 | 2014 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. | 19813183 | 2010 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. | 27987238 | 2017 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. | 19766516 | 2010 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. | 16368709 | 2006 |