TOP3A, DNA topoisomerase III alpha, 7156

N. diseases: 52; N. variants: 9
Disease: Mitochondrial Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.110 GeneticVariation group 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
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.110 CausalMutation group CLINVAR Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. 29290614 2018