Disease: Mitochondrial DNA mutation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		0.030 GeneticVariation disease BEFREE A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. 17152068 2007
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		0.030 GeneticVariation disease BEFREE A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality. 14764913 2004
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		0.030 GeneticVariation disease BEFREE The mutation was present at lower levels in blood from the patient and unaffected maternal relatives and is the first pathogenic mitochondrial DNA mutation in the ND3 gene to be described. 11456298 2001