AARS1, alanyl-tRNA synthetase 1, 16

N. diseases: 84; N. variants: 11
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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