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 | 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 | 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 | Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. | 27987238 | 2017 | ||||||
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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 | The spectrum of epilepsy caused by POLG mutations. | 26104464 | 2016 | ||||||
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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 | Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. | 24272679 | 2014 | ||||||
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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 | POLG mutation presenting with late-onset jerky torticollis. | 23212759 | 2013 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | An informatics approach to analyzing the incidentalome. | 22995991 | 2013 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. | 23783014 | 2013 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. | 23448099 | 2013 | ||||||
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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 | Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. | 22189570 | 2012 | ||||||
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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 | 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 | MELAS/SANDO overlap syndrome associated with POLG1 mutations. | 21647632 | 2012 | ||||||
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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 | Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. | 21515089 | 2011 | ||||||
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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 | Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene. | 23430834 | 2011 | ||||||
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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 | 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 | 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 | High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. | 20818383 | 2010 |