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 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 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 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 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 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 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 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 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 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: C0026848
Disease: Myopathy
Myopathy 		0.110 Biomarker group HPO
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.110 Biomarker group HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.100 Biomarker phenotype HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		0.100 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 Biomarker disease HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO