Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139590686
rs139590686
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.800 CausalMutation CLINVAR De novo mtDNA point mutations are common and have a low recurrence risk. 27450679

2017
dbSNP: rs139590686
rs139590686
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.800 GeneticVariation UNIPROT Mitochondrial DNA depletion syndrome causing liver failure. 25129007

2014
dbSNP: rs139590686
rs139590686
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.800 CausalMutation CLINVAR A national perspective on prenatal testing for mitochondrial disease. 24642831

2014
dbSNP: rs139590686
rs139590686
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.800 CausalMutation CLINVAR Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort. 23921535

2014
dbSNP: rs139590686
rs139590686
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.800 CausalMutation CLINVAR Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected]. 23446635

2013
dbSNP: rs139590686
rs139590686
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.800 CausalMutation CLINVAR Surgical management of the burn wound and use of skin substitutes: an expert panel white paper. 23446645

2013
dbSNP: rs139590686
rs139590686
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.800 CausalMutation CLINVAR Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations. 21956653

2012
dbSNP: rs139590686
rs139590686
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.800 CausalMutation CLINVAR POLG1 manifestations in childhood. 21357833

2011
dbSNP: rs139590686
rs139590686
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.800 CausalMutation CLINVAR Clinical reasoning: a 10-month-old boy with myoclonic status epilepticus. 21282586

2011
dbSNP: rs139590686
rs139590686
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.800 CausalMutation CLINVAR Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. 20843780

2011
dbSNP: rs139590686
rs139590686
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.800 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
dbSNP: rs139590686
rs139590686
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.800 CausalMutation CLINVAR Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. 18828154

2009
dbSNP: rs139590686
rs139590686
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: rs139590686
rs139590686
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.800 CausalMutation CLINVAR Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. 18487244

2008
dbSNP: rs139590686
rs139590686
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.800 CausalMutation CLINVAR Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 18546365

2008
dbSNP: rs139590686
rs139590686
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.800 CausalMutation CLINVAR Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006
dbSNP: rs139590686
rs139590686
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.800 CausalMutation CLINVAR Molecular diagnosis of Alpers syndrome. 16545482

2006
dbSNP: rs139590686
rs139590686
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: rs139590686
rs139590686
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.800 CausalMutation CLINVAR 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: rs139590686
rs139590686
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: rs139590686
rs139590686
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.800 GeneticVariation UNIPROT POLG mutations and Alpers syndrome. 15929042

2005
dbSNP: rs139590686
rs139590686
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: rs139590686
rs139590686
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