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 | Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. | 11431686 | 2001 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. | 15122711 | 2004 | ||||||
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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 | Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. | 15917273 | 2005 | ||||||
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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 | Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. | 16368709 | 2006 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. | 18500570 | 2008 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. | 18546343 | 2008 | ||||||
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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 | De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. | 19501198 | 2009 | ||||||
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T | 0.700 | 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 | ||||||
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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 | 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 | 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 | [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 | POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome. | 20691285 | 2011 | ||||||
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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 | POLG1 variations presenting as multiple sclerosis. | 20837861 | 2010 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. | 21235791 | 2011 | ||||||
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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 | MELAS/SANDO overlap syndrome associated with POLG1 mutations. | 21647632 | 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 | Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. | 21993618 | 2012 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Bowel obstruction in patients with Alpers-Huttenlocher syndrome. | 22006280 | 2011 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. | 22189570 | 2012 |