Source: ALL
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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.310 strong 1.000 2 2015 2018
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0 1
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.100 None 0 1
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype Finding 130 50 0.100 None 0 1