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 		0.020 GeneticVariation group BEFREE Using steady-state kinetic measurements of phenylalanine activation and tRNA<sup>Phe</sup> aminoacylation, we gained insight into the structural and kinetic effects of mitochondrial disease-related mutations in FARS2 gene. 28419689 2017
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.020 Biomarker group BEFREE While these siblings had considerable developmental difficulties, they are making consistent developmental progress and appear to be considerably less severely affected than the other patients reported in the literature with FARS2 associated mitochondrial disease. 25851414 2015