rs113994094
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
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
rs113994094
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
A
0.800
CausalMutation
CLINVAR
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.
20513108
2010
rs113994094
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
0.800
GeneticVariation
UNIPROT
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
18828154
2009
rs113994094
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
A
0.800
CausalMutation
CLINVAR
Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.
23783014
2013
rs113994096
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
A
0.800
CausalMutation
CLINVAR
Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.
15349879
2004
rs113994096
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
0.800
GeneticVariation
UNIPROT
POLG mutations and Alpers syndrome.
15929042
2005
rs113994096
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
0.800
GeneticVariation
UNIPROT
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
16621917
2006
rs113994096
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
A
0.800
CausalMutation
CLINVAR
Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.
23783014
2013
rs113994096
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
A
0.800
CausalMutation
CLINVAR
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
12825077
2003
rs113994096
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
0.800
GeneticVariation
UNIPROT
Mitochondrial DNA depletion syndrome causing liver failure.
25129007
2014
rs113994096
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
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
rs113994096
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
0.800
GeneticVariation
UNIPROT
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
15689359
2005
rs113994096
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
A
0.800
CausalMutation
CLINVAR
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.
20513108
2010
rs113994096
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
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
rs113994096
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
0.800
GeneticVariation
UNIPROT
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
18828154
2009
rs113994096
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
0.800
GeneticVariation
UNIPROT
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
15122711
2004
rs113994098
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
0.800
GeneticVariation
UNIPROT
Mitochondrial DNA depletion syndrome causing liver failure.
25129007
2014
rs113994098
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
T
0.800
CausalMutation
CLINVAR
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
21880868
2011
rs113994098
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
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
rs113994098
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
T
0.800
CausalMutation
CLINVAR
Bowel obstruction in patients with Alpers-Huttenlocher syndrome.
22006280
2011
rs113994098
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
0.800
GeneticVariation
UNIPROT
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
15122711
2004
rs113994098
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Alpers Syndrome (disorder)
T
0.800
CausalMutation
CLINVAR
POLG mutations in Alpers syndrome.
16177225
2005
rs113994098
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
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
rs113994098
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
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
rs113994098
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
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