Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.600 GeneticVariation disease UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.600 GeneticVariation disease UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.600 CausalMutation disease CLINVAR De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.600 GeneticVariation disease UNIPROT De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.600 GeneticVariation disease UNIPROT Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. 26950270 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.600 GeneticVariation disease UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.600 GeneticVariation disease UNIPROT De novo mutations in epileptic encephalopathies. 23934111 2013
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.600 Biomarker disease CTD_human