POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Decreased vibratory sense ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype 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
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype 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
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238 2017
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464 2016
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972 2016
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. 24272679 2014
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease. 25286830 2014
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338 2014
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. 23783014 2013
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR An informatics approach to analyzing the incidentalome. 22995991 2013
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. 23448099 2013
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759 2013
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype 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
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO? 22931735 2012
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. 22189570 2012
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. 21993618 2012
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR MELAS/SANDO overlap syndrome associated with POLG1 mutations. 21647632 2012
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202 2011
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype 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
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. 21515089 2011
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene. 23430834 2011
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome. 20691285 2011
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 22006280 2011
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. 21235791 2011
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.100 CausalMutation phenotype CLINVAR Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. 19813183 2010