Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.700 GeneticVariation disease CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072 2017
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.700 Biomarker disease GENOMICS_ENGLAND Rhabdomyolysis: a genetic perspective. 25929793 2015
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.700 GeneticVariation disease CLINVAR Clinical and molecular features of POLG-related mitochondrial disease. 23545419 2013
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.700 CausalMutation disease CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868 2011
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.700 GeneticVariation disease CLINVAR Polymerase gamma 1 mutations: clinical correlations. 20220442 2010
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.700 CausalMutation disease CLINVAR Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication. 19478085 2009
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.700 GeneticVariation disease UNIPROT Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. 18575922 2008
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.700 GeneticVariation disease UNIPROT Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease. 17846414 2007
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.700 GeneticVariation disease UNIPROT Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. 17420318 2007
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.700 GeneticVariation disease UNIPROT A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism. 15534189 2004
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.700 GeneticVariation disease UNIPROT Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. 15351195 2004
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.700 GeneticVariation disease UNIPROT Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis. 11897778 2002
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.700 GeneticVariation disease UNIPROT Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 12210792 2002
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.700 CausalMutation disease CLINVAR Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 12210792 2002
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.700 GermlineCausalMutation disease ORPHANET Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 11431686 2001
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.700 Biomarker disease CTD_human
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.700 Biomarker disease GENOMICS_ENGLAND