Disease: Epileptic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.020 GeneticVariation disease BEFREE Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. 28493438 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.020 GeneticVariation disease BEFREE Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. 25817015 2015