Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
0.600 CausalMutation disease CLINVAR Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing. 28074849 2017
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
0.600 CausalMutation disease CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
0.600 GeneticVariation disease UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
0.600 CausalMutation disease CLINVAR De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. 24207121 2013
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
0.600 GeneticVariation disease UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
0.600 Biomarker disease GENOMICS_ENGLAND
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
0.600 GeneticVariation disease CLINVAR