Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 Biomarker group BEFREE Fatal human herpesvirus 6-associated encephalitis in two boys with underlying POLG mitochondrial disorders. 25160553 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE An analysis of the POLG1 gene should be performed for all patients with suspected mitochondrial disease before the introduction of valproate therapy, and treatment with valproic acid should be avoided in these patients. 25065347 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 Biomarker group BEFREE Genes encoding the DNA helicase TWINKLE (C10orf2) or the two subunits of mtDNA polymerase γ (POLγ) (POLG1 and POLG2) have a direct effect on the mitochondrial DNA replication machinery and were reported in many mitochondrial disorders. 24011957 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Our clustering method provides a powerful tool to predict the pathogenic potential and predicted disease phenotype of novel variants and mutations in POLG, the most common nuclear gene underlying mitochondrial disorders. 24508722 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 Biomarker group BEFREE Distal upper limb myopathy/cachexia is not previously described with dominant POLG mutations and our observations further highlight the diverse clinical spectrum of POLG-related mitochondrial disorders. 22933815 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 Biomarker group BEFREE The aim of this study was to determine the prevalence of POLG mutations in an adult population of Australian patients with mitochondrial disease, displaying symptoms commonly associated with POLG-related diseases. 22647225 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Our findings suggest that the presence of HOD, in the appropriate clinical setting, should alert the clinician to the possibility of a mitochondrial disorder and the need to screen for mutations in POLG and SURF1 genes. 22729384 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 Biomarker group BEFREE The combinatorial analyses of mtDNA and POLG revealed a diagnostic yield of 6.7% in patients with suspected mitochondrial disorders but no recognizable syndromes. 23463613 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Many mutations in POLG, the gene that encodes pol γ, have been associated with mitochondrial diseases such as myocerebrohepatopathy spectrum (MCHS) disorders, Alpers-Huttenlocher syndrome, myoclonic epilepsy myopathy sensory ataxia (MEMSA), ataxia neuropathy spectrum (ANS), and progressive external ophthalmoplegia (PEO). 23545419 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE (1) Mitochondrial disorders(2) are a well-recognized cause; however, to our knowledge this is the first time that such extensive intracranial calcium deposits have been described in a patient with a POLG1 mutation. 23836942 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Mutations in POLG account for one of the most frequent nuclear encoded causes of mitochondrial disorders to date. 22405928 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Mitochondrial disorder was clinically suspected and a homozygous c.2243G>C mutation (p.Trp748Ser) was discovered in the POLG1 gene. 23248042 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Alpers syndrome is one of the most common phenotypes of mitochondrial disorders in early childhood and has been associated with pathogenic mutations in POLG1. 22237560 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Defects in the mitochondrial DNA replication enzyme, polymerase γ, are an important cause of mitochondrial disease with ∼25% of all adult diagnoses attributed to mutations in the POLG gene. 22189570 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 Biomarker group BEFREE Sequence analysis of the POLG gene should be considered as a part of routine screening for mitochondrial disorders, even in the absence of apparent mitochondrial DNA abnormalities. 21880868 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE About 150 mutations in the human POLG have been identified in patients with mitochondrial diseases such as Alpers syndrome, progressive external ophthalmoplegia, and ataxia-neuropathy syndromes. 20927567 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Mutations in the polymerase γ (POLG) gene are among the most common causes of mitochondrial disease and more than 160 POLG mutations have been reported. 20708716 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 Biomarker group BEFREE We investigated POLG1 in 136 children, all clinically suspected to have mitochondrial disease, with one or more of the following: ataxia, axonal neuropathy, severe epilepsy without known epilepsy syndrome, epileptic encephalopathy, encephalohepatopathy, or neuropathologically verified Alpers syndrome. 21357833 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 Biomarker group BEFREE Missense mutations in the gene for polymerase gamma 1 (POLG1) cause a number of phenotypically heterogeneous mitochondrial diseases, most commonly progressive external ophthalmoplegia, and are characterized by the accumulation of multiple, large-scale deletions of mitochondrial DNA. 20513108 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Mutations in POLG1 are an important cause of human mitochondrial disease. 22778364 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Mutations in POLG1 have been linked to a spectrum of clinical phenotypes, and may account for up to 25% of all adult presentations of mitochondrial disease. 19251978 2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Mutations in POLG are a major contributor to pediatric and adult mitochondrial diseases. 19501198 2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE Mutations in the DNA polymerase-gamma (POLG) gene are a major cause of clinically heterogeneous mitochondrial diseases, associated with mtDNA depletion and multiple deletions. 19578034 2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE POLG, the gene encoding the catalytic subunit of pol gamma, is a major locus for a wide spectrum of mitochondrial diseases with more than 100 known disease mutations. 19513667 2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.500 GeneticVariation group BEFREE The epileptic semiology of 19 patients (from 15 families) with mitochondrial disease due to mutations in the POLG1 gene is presented. 18238797 2008