Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 16
Gene Symbol: AARS
AARS
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
0.600 GeneticVariation UNIPROT Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. 28493438

2018

Entrez Id: 16
Gene Symbol: AARS
AARS
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
0.600 GeneticVariation UNIPROT Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. 25817015

2015