Source: CURATED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.500 limited 1.000 2 2006 2013
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 30 94 0.310 limited 1.000 1 2006 2013
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 3 2 0.300 limited 1.000 1 2013 2013
CUI: C3807541
Disease: MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY 		disease Disease or Syndrome 1 0.300 limited 0