Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994097
rs113994097
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.830 GeneticVariation UNIPROT Mitochondrial DNA depletion syndrome causing liver failure. 25129007

2014
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 Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
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) 		0.830 GeneticVariation UNIPROT Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. 18828154

2009
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) 		0.830 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: 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) 		0.830 GeneticVariation UNIPROT Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006
dbSNP: rs113994097
rs113994097
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.830 GeneticVariation UNIPROT Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. 15689359

2005
dbSNP: rs113994097
rs113994097
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.830 GeneticVariation UNIPROT POLG mutations and Alpers syndrome. 15929042

2005
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) 		0.830 GeneticVariation UNIPROT POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711

2004