Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation 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
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 18546365

2008
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. 19752458

2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity. 19364868

2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR Propofol-related infusion syndrome heralding a mitochondrial disease: case report. 23873972

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe. 20803511

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 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
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. 20185557

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment. 17436221

2007
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR Universal heteroplasmy of human mitochondrial DNA. 23077218

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR Depletion of mtDNA: syndromes and genes. 17280874

2007
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. 20843780

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 Biomarker HPO

Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation 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
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts. 21138766

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 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
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. 18585914

2008
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation 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
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation 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
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. 24272679

2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation 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
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238

2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation 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
CUI: C0036572
Disease: Seizures
Seizures 		0.430 CausalMutation CLINVAR Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. 21235791

2011