Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene. 31843010 2019
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Although parkinsonism is more frequent in POLG1 mutations, and myoclonus in MERFF, most movement disorders are found either isolated or combined in numerous MIDs. 27476418 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Parkinsonism was the most prevalent extrapyramidal movement disorder in adults and was commonly associated with POLG mutations; dystonia was predominantly associated with mitochondrial DNA mutations. 27111573 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 Biomarker group BEFREE We review the genotypic and phenotypic spectrum of POLG1-related parkinsonism. 25203713 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE This report further expands the spectrum of POLG1-associated neurologic problems with the report of a novel mutation in the linker region of the gene, which are rarely associated with parkinsonism. 23865558 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 Biomarker group BEFREE Parkinsonism has to be investigated in patients with PEO with analysis of Twinkle mutation. 24076137 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Our results suggest that 3-T neuromelanin MRI may be useful for differentiating POLG1 mutation-associated parkinsonism from iPD, and that POLG1 mutations may cause selective neuronal loss in the SN via a mechanism different from that of iPD. 23673011 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Association of mitochondrial DNA polymerase γ gene POLG1 polymorphisms with parkinsonism in Chinese populations. 23251356 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 Biomarker group BEFREE Mutations in the progressive external ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1) and DNA polymerase gamma (POLG) genes were reported in patients with progressive external ophthalmoplegia and parkinsonism. 21301859 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 Biomarker group BEFREE In this article, we do not revise the mitochondrial hypothesis of sporadic, idiopathic Parkinson disease, extensively discussed elsewhere, but we review POLG1-related parkinsonism and other well-defined forms of "mitochondrial parkinsonisms", with mtDNA mutations or rearrangements. 21221844 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE First, POLG1 missense mutations have been found in patients with familial parkinsonism and mitochondrial myopathy. 20399836 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Here we report two novel mutations in POLG1 in a compound heterozygous patient with autosomal recessive PEO, followed by pseudo-orthostatic tremor evolving into levodopa-responsive parkinsonism. 18502641 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 Biomarker group CTD_human Alpers syndrome with prominent white matter changes. 17923349 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group LHGDN Here we report two novel mutations in POLG1 in a compound heterozygous patient with autosomal recessive PEO, followed by pseudo-orthostatic tremor evolving into levodopa-responsive parkinsonism. 18502641 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene. 18321754 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. 17420318 2007
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group LHGDN Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. 17420318 2007
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group LHGDN Collectively, these results offer a biochemical link between the observed oxidative stress in model systems and parkinsonism in patients, suggesting that patients harboring the Y955C POLG mutation may undergo enhanced oxidative stress and DNA mutagenesis. 17725985 2007
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group LHGDN Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. 16595552 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group LHGDN Our observations do not support a role for common POLG1 genetic variants in PD and indicate that dominant POLG1 mutations are a rare cause of parkinsonism in the general population. 16943369 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Our observations do not support a role for common POLG1 genetic variants in PD and indicate that dominant POLG1 mutations are a rare cause of parkinsonism in the general population. 16943369 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE POLG mutations can cause early-onset parkinsonism in the absence of progressive external ophthalmoplegia. 16634032 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Clinically, POLG mutations can present from early neonatal life to late middle age, with a spectrum of phenotypes that includes common neurological disorders such as migraine, epilepsy and Parkinsonism. 16987890 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group LHGDN Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. 15351195 2004
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 Biomarker group HPO