AARS1, alanyl-tRNA synthetase 1, 16

N. diseases: 84; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 Biomarker disease BEFREE Most patients (198) with CMT1A carried the 17p11.2 duplication including the PMP22 gene, 45 patients with HNPP were all affected by deletion of the 17p11.2 locus, and 10 patients presented with axonal phenotypes: CMT2A (MFN2), CMT2N (AARS), and CMT1X (GJB1). 30569560 2019
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 Biomarker disease GENOMICS_ENGLAND Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland. 26032230 2015
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 CausalMutation disease CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 GeneticVariation disease UNIPROT A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). 22009580 2012
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 GeneticVariation disease UNIPROT The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013 2011
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 GeneticVariation disease UNIPROT A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. 20045102 2010
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 CausalMutation disease CLINVAR A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. 20045102 2010
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 Biomarker disease CTD_human
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 GeneticVariation disease CLINVAR
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.700 Biomarker disease GENOMICS_ENGLAND Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. 28493438 2017
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.700 GeneticVariation disease UNIPROT Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. 28493438 2017
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.700 GeneticVariation disease UNIPROT Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. 25817015 2015
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.700 GeneticVariation disease CLINVAR
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.700 CausalMutation disease CLINVAR
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.700 Biomarker disease CTD_human
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.160 GeneticVariation disease BEFREE We identified three novel disease-associated missense mutations in the alanyl-tRNA synthetase (AARS) gene in three families with dominant axonal Charcot-Marie-Tooth (CMT) disease. 30124830 2018
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.160 Biomarker disease BEFREE Although alanyl-tRNA synthetase (AARS) is a synthetase implicated in a wide range of neurological disorders from Charcot-Marie-Tooth disease to infantile epileptic encephalopathy, there have been limited data on their pathogenesis. 28493438 2017
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.160 GeneticVariation disease BEFREE Mutations in AARS were previously associated with an autosomal-dominant inherited form of axonal neuropathy, Charcot-Marie-Tooth disease type 2N (CMT2N). 25817015 2015
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.160 GeneticVariation disease BEFREE Together, our data suggest that impaired tRNA charging plays a role in the molecular pathology of CMT2N, and that patients with CMT should be directly tested for the p.Arg329His AARS mutation. 22009580 2012
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.160 GeneticVariation disease BEFREE AARS mutations result in not only a CMT phenotype but also a dHMN phenotype. 22573628 2012
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.160 GeneticVariation disease BEFREE A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. 20045102 2010
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.160 CausalMutation disease CLINVAR