Gene: POLG ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease. 25286830 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts. 21138766 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 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
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 GeneticVariation phenotype CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. 18585914 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. 18546343 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 12565911 2003
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. 24272679 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype 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 		0.430 CausalMutation phenotype CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype 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 		0.430 CausalMutation phenotype CLINVAR Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. 21235791 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease. 25585994 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 12210792 2002
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. 17426723 2007
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1). 21686371 2009
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. 16024923 2005
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 GeneticVariation phenotype CLINVAR Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 18546365 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Novel POLG splice site mutation and optic atrophy. 21670405 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR POLG1 variations presenting as multiple sclerosis. 20837861 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. 21515089 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 GeneticVariation phenotype CLINVAR Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. 19752458 2009
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation. 26755490 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.430 CausalMutation phenotype CLINVAR Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. 18500570 2008