Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.030 Biomarker disease BEFREE Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst. 29663568 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.030 GeneticVariation disease BEFREE Mutation of the gene encoding ubiquitin-like modifier-activating enzyme 5 (UBA5) causes autosomal recessive early-onset epileptic encephalopathy. 30078785 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.030 GeneticVariation disease BEFREE To our knowledge, this is the first description of mutations in UBA5 since the initial discovery that pathogenic biallelic variants in the gene cause early-onset epileptic encephalopathy. 28965491 2017