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: C0442874
Disease: Neuropathy
Neuropathy 		0.010 GeneticVariation group BEFREE Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. 16429158 2006
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.010 GeneticVariation disease BEFREE By using an exome sequencing approach, we identified a LHON susceptibility allele (c.572G>T, p.191Gly>Val) in YARS2 gene encoding mitochondrial tyrosyl-tRNA synthetase, which interacts with m.11778G>A mutation to cause visual failure. 26647310 2016
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		0.010 Biomarker disease BEFREE The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. 26647310 2016
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 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 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 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 CLINVAR Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. 24344687 2013
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.130 CausalMutation group CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649 2017
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.100 CausalMutation disease CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.100 CausalMutation disease CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 CausalMutation disease CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 CausalMutation disease CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.100 CausalMutation phenotype CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.100 CausalMutation phenotype CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016
CUI: C0877017
Disease: Generalized tonic-clonic seizures with focal onset
Generalized tonic-clonic seizures with focal onset 		0.100 CausalMutation disease CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016
CUI: C0877017
Disease: Generalized tonic-clonic seizures with focal onset
Generalized tonic-clonic seizures with focal onset 		0.100 CausalMutation disease CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder) 		0.100 GeneticVariation disease CLINVAR
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder) 		0.100 CausalMutation disease CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.100 CausalMutation phenotype CLINVAR
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		0.100 CausalMutation disease CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		0.100 CausalMutation disease CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016
CUI: C3280660
Disease: ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.100 GeneticVariation disease CLINVAR A lethal defect of mitochondrial and peroxisomal fission. 17460227 2007
CUI: C3280660
Disease: ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.100 CausalMutation disease CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016