YARS2, tyrosyl-tRNA synthetase 2, 51067

N. diseases: 55; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607180
rs267607180
Entrez Id: 51067
Gene Symbol: YARS2
YARS2
CUI: C3150802
Disease:
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.810 GeneticVariation 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
dbSNP: rs267607180
rs267607180
Entrez Id: 51067
Gene Symbol: YARS2
YARS2
CUI: C3150802
Disease:
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		C 0.810 GeneticVariation CLINVAR <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
dbSNP: rs267607180
rs267607180
Entrez Id: 51067
Gene Symbol: YARS2
YARS2
CUI: C3150802
Disease:
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		C 0.810 GeneticVariation CLINVAR A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. 23918765 2013
dbSNP: rs267607180
rs267607180
Entrez Id: 51067
Gene Symbol: YARS2
YARS2
CUI: C3150802
Disease:
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		C 0.810 GeneticVariation CLINVAR Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. 24344687 2013
dbSNP: rs267607180
rs267607180
Entrez Id: 51067
Gene Symbol: YARS2
YARS2
CUI: C3150802
Disease:
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.810 GeneticVariation UNIPROT A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. 22504945 2012
dbSNP: rs267607180
rs267607180
Entrez Id: 51067
Gene Symbol: YARS2
YARS2
CUI: C3150802
Disease:
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.810 GeneticVariation UNIPROT Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. 20598274 2010
dbSNP: rs267607180
rs267607180
Entrez Id: 51067
Gene Symbol: YARS2
YARS2
CUI: C3150802
Disease:
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		C 0.810 GeneticVariation CLINVAR Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. 20598274 2010
dbSNP: rs267607180
rs267607180
Entrez Id: 51067
Gene Symbol: YARS2
YARS2
CUI: C3150802
Disease:
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		C 0.810 CausalMutation CLINVAR
dbSNP: rs121908531
rs121908531
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Structural basis of mitochondrial receptor binding and constriction by DRP1. 29899447 2018
dbSNP: rs863223953
rs863223953
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Structural basis of mitochondrial receptor binding and constriction by DRP1. 29899447 2018
dbSNP: rs879255685
rs879255685
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Structural basis of mitochondrial receptor binding and constriction by DRP1. 29899447 2018
dbSNP: rs886037861
rs886037861
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Structural basis of mitochondrial receptor binding and constriction by DRP1. 29899447 2018
dbSNP: rs121908531
rs121908531
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016
dbSNP: rs121908531
rs121908531
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy. 27328748 2016
dbSNP: rs121908531
rs121908531
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function. 26992161 2016
dbSNP: rs121908531
rs121908531
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016
dbSNP: rs121908531
rs121908531
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst. 27301544 2016
dbSNP: rs863223953
rs863223953
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy. 27328748 2016
dbSNP: rs863223953
rs863223953
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016
dbSNP: rs863223953
rs863223953
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		T 0.800 CausalMutation CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016
dbSNP: rs863223953
rs863223953
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst. 27301544 2016
dbSNP: rs863223953
rs863223953
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016
dbSNP: rs863223953
rs863223953
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		T 0.800 CausalMutation CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016
dbSNP: rs863223953
rs863223953
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function. 26992161 2016
dbSNP: rs879255685
rs879255685
Entrez Id: 10059;51067
Gene Symbol: DNM1L;YARS2
DNM1L;YARS2
CUI: C3280660
Disease:
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 GeneticVariation UNIPROT DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016