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 		0.310 Biomarker disease GENOMICS_ENGLAND Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients. 23329067 2013
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.310 AlteredExpression disease BEFREE Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy. 16249883 2006