Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.800 GeneticVariation UNIPROT Mitochondrial DNA depletion syndrome causing liver failure. 25129007

2014
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.800 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
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.800 CausalMutation CLINVAR Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. 22189570

2012
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.800 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202

2011
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.800 CausalMutation CLINVAR Novel POLG splice site mutation and optic atrophy. 21670405

2011
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.800 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.800 CausalMutation CLINVAR Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 22006280

2011
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.800 CausalMutation CLINVAR Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication. 19478085

2009
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.800 GeneticVariation UNIPROT Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. 18828154

2009
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.800 CausalMutation CLINVAR Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. 18500570

2008
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.800 CausalMutation CLINVAR Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. 17426723

2007
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.800 CausalMutation CLINVAR Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human. 17980715

2007
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.800 GeneticVariation UNIPROT Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.800 GeneticVariation UNIPROT Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. 16639411

2006
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.800 GeneticVariation UNIPROT Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. 15689359

2005
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.800 CausalMutation CLINVAR POLG mutations in Alpers syndrome. 16177225

2005
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.800 GeneticVariation UNIPROT POLG mutations and Alpers syndrome. 15929042

2005
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.800 GeneticVariation UNIPROT POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711

2004
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.800 CausalMutation CLINVAR Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. 12872260

2003
dbSNP: rs113994098
rs113994098
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.800 CausalMutation CLINVAR Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 12210792

2002