Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.840 CausalMutation CLINVAR Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 15917273

2005
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.840 CausalMutation CLINVAR Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease. 25286830

2014
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.840 CausalMutation CLINVAR POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome. 20691285

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.840 CausalMutation CLINVAR POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711

2004
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.840 CausalMutation CLINVAR The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. 16024923

2005
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.840 CausalMutation CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972

2016
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.840 CausalMutation CLINVAR Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 11431686

2001
dbSNP: rs113994097
rs113994097
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.830 GeneticVariation CLINVAR The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. 16638794

2006
dbSNP: rs113994097
rs113994097
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.830 GeneticVariation CLINVAR Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. 17088268

2006
dbSNP: rs113994097
rs113994097
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.830 GeneticVariation CLINVAR Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO? 22931735

2012
dbSNP: rs113994097
rs113994097
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.830 CausalMutation CLINVAR Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. 17088268

2006
dbSNP: rs113994097
rs113994097
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.830 GeneticVariation CLINVAR POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 15477547

2004
dbSNP: rs113994097
rs113994097
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.830 GeneticVariation CLINVAR Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G. 20153822

2010
dbSNP: rs113994097
rs113994097
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.830 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		T 0.810 CausalMutation CLINVAR

dbSNP: rs368435864
rs368435864
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.800 GeneticVariation CLINVAR

dbSNP: rs368435864
rs368435864
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.800 CausalMutation CLINVAR

dbSNP: rs201732356
rs201732356
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		A 0.800 CausalMutation CLINVAR Gender variability in presentation with Alpers' syndrome: a report of eight patients from the UAE. 21305355

2011
dbSNP: rs201732356
rs201732356
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		A 0.800 GeneticVariation CLINVAR

dbSNP: rs201732356
rs201732356
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		A 0.800 CausalMutation CLINVAR Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). 12707443

2003
dbSNP: rs201732356
rs201732356
POLG
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		A 0.800 GeneticVariation CLINVAR

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) 		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 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 Clinical reasoning: a 10-month-old boy with myoclonic status epilepticus. 21282586

2011