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 		0.430 GeneticVariation disease BEFREE To delineate the phenotype of early childhood epileptic encephalopathy due to de novo mutations of CHD2, which encodes the chromodomain helicase DNA binding protein 2. 25672921 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 GeneticVariation disease BEFREE Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2 mutations, but is also seen in epileptic encephalopathies due to other gene mutations. 25783594 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 Biomarker disease GENOMICS_ENGLAND Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 GeneticVariation disease BEFREE Our study provides evidence that de novo loss-of-function mutations in CHD2 are a cause of epileptic encephalopathy with generalized seizures. 24207121 2013
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 Biomarker disease GENOMICS_ENGLAND
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 Biomarker disease HPO