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 		0.120 GeneticVariation group BEFREE The commonest genetic ataxias were Friedreich's ataxia (22%), SCA6 (14%), EA2 (13%), SPG7 (10%) and mitochondrial disease (10%). 27965395 2017
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.120 CausalMutation group CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649 2017
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.120 GeneticVariation group BEFREE The provided genomic structure of SPG7 should facilitate the screening for mutations in this gene in patients with HSP and other related mitochondrial disease syndromes. 10480368 1999