Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.700 GeneticVariation group BEFREE PurposeMutations in POLG, the most common single-gene cause of inherited mitochondrial disease, are diagnostically challenging owing to clinical heterogeneity and overlap between syndromes. 28471437 2018
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.700 CausalMutation group CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.700 Biomarker group BEFREE Clinical diagnosis of POLG-related disorders can be challenging because the phenotypic spectrums are heterogeneous which can mimic different types of mitochondrial disorders. 26169155 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.700 Biomarker group BEFREE Fatal human herpesvirus 6-associated encephalitis in two boys with underlying POLG mitochondrial disorders. 25160553 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.700 GeneticVariation group BEFREE We identified a mitochondrial disease causing missense variation in polymerase domain of POLG1 protein at amino acid 1143 (E1143G) to be 25 times more prevalent in European-Americans (allele frequency 0.03777) when compared to African-American (allele frequency 0.00151) population. 26468652 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.700 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 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.700 GeneticVariation group BEFREE Diseases due to mutations of POLG gene, encoding the mitochondrial DNA polymerase, are reputed to have very diverse clinical presentations and have been proposed to cause up to 25% adult mitochondrial diseases. 25118206 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.700 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
0.700 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
0.700 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
0.700 GeneticVariation group BEFREE POLG mutations in Australian patients with mitochondrial disease. 22647225 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.700 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
0.700 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
0.700 GeneticVariation 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
0.700 GeneticVariation group BEFREE Mitochondrial disorder was clinically suspected and a homozygous c.2243G>C mutation (p.Trp748Ser) was discovered in the POLG1 gene. 23248042 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.700 Biomarker group BEFREE Clinical and molecular features of POLG-related mitochondrial disease. 23545419 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.700 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
0.700 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
0.700 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
0.700 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 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.700 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
0.700 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
0.700 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
0.700 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 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.700 GeneticVariation group BEFREE Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 18546365 2010