|
rs113994098
|
|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mitochondrial DNA depletion syndrome causing liver failure.
|
25129007 |
2014 |
|
rs113994098
|
|
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.
|
19307547 |
2009 |
|
rs113994098
|
|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
|
18828154 |
2009 |
|
rs113994098
|
|
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 |
|
rs113994098
|
|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
|
16621917 |
2006 |
|
rs113994098
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
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 |
|
rs113994098
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.
|
16401742 |
2006 |
|
rs113994098
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
|
16621917 |
2006 |
|
rs113994098
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Early-onset familial parkinsonism due to POLG mutations.
|
16634032 |
2006 |
|
rs113994098
|
|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
|
15689359 |
2005 |
|
rs113994098
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
|
15917273 |
2005 |
|
rs113994098
|
|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
POLG mutations and Alpers syndrome.
|
15929042 |
2005 |
|
rs113994098
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
|
15477547 |
2004 |
|
rs113994098
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.
|
15349879 |
2004 |
|
rs113994098
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
|
15351195 |
2004 |
|
rs113994098
|
|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
|
15122711 |
2004 |
|
rs113994098
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
|
12975295 |
2003 |
|
rs113994098
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
|
12707443 |
2003 |
|
rs113994098
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
|
14635118 |
2003 |
|
rs113994098
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.
|
12872260 |
2003 |
|
rs113994098
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
|
12565911 |
2003 |
|
rs113994098
|
|
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
|
12825077 |
2003 |
|
rs113994098
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
|
11431686 |
2001 |
|
rs113994098
|
|
Leigh Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
|
18828154 |
2009 |