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 		0.010 GeneticVariation disease BEFREE De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. 30166628 2019