Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Chronic progressive external ophthalmoplegia
0.110 GeneticVariation disease BEFREE The importance of this process is highlighted in a patient with mitochondrial disease caused by biallelic pathogenic variants in TOP3A, characterized by muscle-restricted mtDNA deletions and chronic progressive external ophthalmoplegia (CPEO) plus syndrome. 29290614 2018
Chronic progressive external ophthalmoplegia
0.110 Biomarker disease HPO