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 		0.120 Biomarker disease BEFREE Our study supports the candidacy of CACNA2D2 as a disease gene associated with a phenotypic spectrum of neurological disease that include features of developmental and epileptic encephalopathy, ataxia, and cerebellar atrophy. 31402629 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.120 Biomarker disease BEFREE Involvement of CACNA2D2 in EE is therefore not confirmed, while that of CELSR3 is questionable. 24358150 2013
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.120 GeneticVariation disease CLINVAR
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.120 Biomarker disease HPO