Gene: POLG ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201477273
rs201477273
POLG
A 0.700 GeneticVariation CLINVAR R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity. 19364868

2009
dbSNP: rs201477273
rs201477273
POLG
A 0.700 GeneticVariation CLINVAR Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment. 17436221

2007
dbSNP: rs201477273
rs201477273
POLG
A 0.700 GeneticVariation CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540

2013
dbSNP: rs201477273
rs201477273
POLG
A 0.700 GeneticVariation CLINVAR Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 18546365

2008
dbSNP: rs368435864
rs368435864
POLG
T 0.700 GeneticVariation CLINVAR Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006
dbSNP: rs368435864
rs368435864
POLG
T 0.700 GeneticVariation CLINVAR mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. 20185557

2010
dbSNP: rs368435864
rs368435864
POLG
T 0.700 GeneticVariation CLINVAR Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients. 23208208

2013
dbSNP: rs368435864
rs368435864
POLG
T 0.700 GeneticVariation CLINVAR Depletion of mtDNA: syndromes and genes. 17280874

2007
dbSNP: rs368435864
rs368435864
POLG
T 0.700 GeneticVariation CLINVAR Universal heteroplasmy of human mitochondrial DNA. 23077218

2013
dbSNP: rs368435864
rs368435864
POLG
T 0.700 GeneticVariation CLINVAR Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. 20843780

2011
dbSNP: rs368435864
rs368435864
POLG
T 0.700 GeneticVariation CLINVAR Propofol-related infusion syndrome heralding a mitochondrial disease: case report. 23873972

2013
dbSNP: rs368435864
rs368435864
POLG
T 0.700 GeneticVariation CLINVAR Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. 19752458

2009
dbSNP: rs368435864
rs368435864
POLG
T 0.700 GeneticVariation CLINVAR POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe. 20803511

2010
dbSNP: rs1057517891
rs1057517891
POLG
A 0.700 CausalMutation CLINVAR

dbSNP: rs113994094
rs113994094
POLG
A 0.700 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202

2011
dbSNP: rs113994094
rs113994094
POLG
A 0.700 CausalMutation CLINVAR The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. 23665194

2013
dbSNP: rs113994094
rs113994094
POLG
A 0.700 CausalMutation CLINVAR Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease. 25585994

2015
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
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
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR POLG1 variations presenting as multiple sclerosis. 20837861

2010
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. 24725338

2014
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR POLG mutation presenting with late-onset jerky torticollis. 23212759

2013
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome. 20691285

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. 24272679

2014
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR We describe a 16-year-old woman with a rare POLG1 A467T/W748S genotype, with a wide range of neurological manifestations, including focal parieto-occipital lobe seizures, migraine headaches, cerebellar ataxia, sensory-motor axonal neuropathy, and impairment of visual perception and cognitive function. 21515089

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
T 0.700 CausalMutation CLINVAR Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease. 25286830

2014