YARS2, tyrosyl-tRNA synthetase 2, 51067

N. diseases: 55; N. variants: 19
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 		0.130 GeneticVariation group BEFREE Six adults in a well-defined mitochondrial disease cohort and 11 additional cases described in the literature were identified with YARS2 variants between January 1, 2000, and January 31, 2015. 28395030 2017
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.130 CausalMutation group CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649 2017
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.130 GeneticVariation group BEFREE Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) is a rare mitochondrial disorder that has previously been associated with mutations in PUS1 and YARS2. 25037980 2014
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.130 GeneticVariation group BEFREE Biallelic mutations in the YARS2 gene encoding mitochondrial tyrosyl-tRNA synthetase cause myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2), a type of mitochondrial disease. 24430573 2014