POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
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
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
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
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		0.830 GeneticVariation UNIPROT Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917 2006
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		0.830 GeneticVariation UNIPROT Mitochondrial DNA depletion syndrome causing liver failure. 25129007 2014
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
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
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
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
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
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
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
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
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
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
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		G 0.830 GeneticVariation CLINVAR POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 15477547 2004
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		0.830 GeneticVariation UNIPROT Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. 15689359 2005
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		0.830 GeneticVariation UNIPROT POLG mutations and Alpers syndrome. 15929042 2005
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		0.830 GeneticVariation BEFREE The W748S POLG1 mutation seems to lead to tissue-specific, partial mtDNA depletion in patients with juvenile-onset Alpers syndrome. 18294203 2008
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		0.830 GeneticVariation UNIPROT POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711 2004
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		0.830 GeneticVariation BEFREE The p.W748S POLG gene mutation was revealed in 2 children, the only ones in the cohort who fulfilled the AHS criteria. 21455106 2011
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		0.830 GeneticVariation BEFREE The W748S mutation is one of the most common mutations in this gene and it has been found to be a frequent cause of autosomal recessive ataxia in adults and the Alpers syndrome in children. 18321754 2008
dbSNP: rs113994097
rs113994097
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		0.830 GeneticVariation UNIPROT Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. 18828154 2009
dbSNP: rs113994094
rs113994094
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		A 0.800 CausalMutation CLINVAR The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. 23665194 2013
dbSNP: rs113994094
rs113994094
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		A 0.800 CausalMutation CLINVAR Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 12210792 2002
dbSNP: rs113994094
rs113994094
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		0.800 GeneticVariation UNIPROT Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917 2006
dbSNP: rs113994094
rs113994094
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		0.800 GeneticVariation UNIPROT POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711 2004
dbSNP: rs113994094
rs113994094
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		0.800 GeneticVariation UNIPROT Mitochondrial DNA depletion syndrome causing liver failure. 25129007 2014
dbSNP: rs113994094
rs113994094
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		0.800 GeneticVariation UNIPROT Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. 15689359 2005
dbSNP: rs113994094
rs113994094
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		A 0.800 CausalMutation CLINVAR Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202 2011
dbSNP: rs113994094
rs113994094
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0205710
Disease:
Alpers Syndrome (disorder) 		0.800 GeneticVariation UNIPROT POLG mutations and Alpers syndrome. 15929042 2005