Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.130 GeneticVariation disease BEFREE Early-onset dyschromatopsia and optic atrophy can occur not only in OPA1-related but also in POLG-related disorders with significant impact on genetic counseling. 21670405 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.130 GeneticVariation disease BEFREE The clinical findings in this patient indicate that the combination of the two mtDNA mutations resulted in the expected combined phenotype since the mtDNA deletion mutation accounted for the PEO and the mtDNA G11778A point mutation for the optic atrophy. 19015050 2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.130 Biomarker disease BEFREE Finally OPA1 missense mutations are involved in phenotypes presenting optic atrophy as a major feature.To define the relative contribution of POLG1, POLG2, ANT1 and PEO1 genes to the mtDNA multiple deletion syndromes, we analysed them in a cohort of 67 probands showing accumulation of multiple mtDNA deletions in muscle. 18575922 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.130 Biomarker disease HPO