YARS2, tyrosyl-tRNA synthetase 2, 51067

N. diseases: 55; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150802
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.620 GeneticVariation disease CLINVAR The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. 30026338 2018
CUI: C3150802
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.620 GeneticVariation disease BEFREE <i>In vitro</i> amino-acylation assays of five novel missense variants showed that three had less effect on the catalytic activity of YARS2 than the most commonly reported variant, p.(Phe52Leu), associated with MLASA2, which may explain the milder phenotypes in patients with these variants. 30026338 2018
CUI: C3150802
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.620 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C3150802
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.620 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C3150802
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.620 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3150802
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.620 Biomarker disease GENOMICS_ENGLAND 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
CUI: C3150802
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.620 GeneticVariation disease 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
CUI: C3150802
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.620 GeneticVariation disease CLINVAR A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. 23918765 2013
CUI: C3150802
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.620 Biomarker disease GENOMICS_ENGLAND Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. 24344687 2013
CUI: C3150802
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.620 GeneticVariation disease CLINVAR Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. 24344687 2013
CUI: C3150802
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.620 GeneticVariation disease UNIPROT A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. 22504945 2012
CUI: C3150802
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.620 Biomarker disease GENOMICS_ENGLAND Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. 20598274 2010
CUI: C3150802
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.620 GeneticVariation disease CLINVAR Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. 20598274 2010
CUI: C3150802
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.620 GeneticVariation disease UNIPROT Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. 20598274 2010
CUI: C1838103
Disease: MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 		0.560 GeneticVariation disease BEFREE YARS2 mutations have been associated with a clinical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern populations. 28395030 2017
CUI: C1838103
Disease: MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 		0.560 GeneticVariation disease 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: C1838103
Disease: MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 		0.560 GermlineCausalMutation disease ORPHANET A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. 24430573 2014
CUI: C1838103
Disease: MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 		0.560 Biomarker disease BEFREE In this study we have identified novel YARS2 mutations and noted marked phenotypic variability among YARS2 MLASA patients, with phenotypes ranging from mild to lethal, and we suggest that the background mtDNA haplotype may be contributing to the phenotypic variability. 24344687 2013
CUI: C1838103
Disease: MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 		0.560 GeneticVariation disease BEFREE Clinical diagnosis of MLASA prompted direct sequence analysis of the YARS2 gene encoding the mitochondrial tyrosyl-tRNA synthetase, which revealed homozygosity for a known pathogenic mutation, c.156C>G;p.F52L. 23918765 2013
CUI: C1838103
Disease: MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 		0.560 GermlineCausalMutation disease ORPHANET In this study we have identified novel YARS2 mutations and noted marked phenotypic variability among YARS2 MLASA patients, with phenotypes ranging from mild to lethal, and we suggest that the background mtDNA haplotype may be contributing to the phenotypic variability. 24344687 2013
CUI: C1838103
Disease: MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 		0.560 GermlineCausalMutation disease ORPHANET This study confirms mutations in YARS2 as a cause of MLASA and shows that, like some of the cytoplasmic ARSs, mitochondrial ARSs occur in high-molecular-weight complexes. 22504945 2012
CUI: C1838103
Disease: MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 		0.560 GeneticVariation disease BEFREE This study confirms mutations in YARS2 as a cause of MLASA and shows that, like some of the cytoplasmic ARSs, mitochondrial ARSs occur in high-molecular-weight complexes. 22504945 2012
CUI: C1838103
Disease: MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 		0.560 GermlineCausalMutation disease ORPHANET MLASA has previously been associated with PUS1 mutations; hence, the YARS2 mutation reported here is an alternative cause of MLASA. 20598274 2010
CUI: C1838103
Disease: MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 		0.560 GeneticVariation disease BEFREE MLASA has previously been associated with PUS1 mutations; hence, the YARS2 mutation reported here is an alternative cause of MLASA. 20598274 2010
CUI: C1838103
Disease: MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 		0.560 Biomarker disease CTD_human