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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 98 0.810 1.000 29 98 2003 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 128 293 0.500 0.969 67 2 2005 2017
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.500 1.000 39 1 2005 2017
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease Nervous System Diseases Disease or Syndrome 66 14 0.500 0.964 29 1 2003 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.500 strong 0.958 25 4 2007 2018
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 78 0.500 0.900 11 42 2008 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.500 strong 1.000 11 1 2003 2015
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 59 132 0.410 1.000 2 1 2005 2009
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 155 0.400 1 2012 2012
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 172 10 0.310 1.000 2 2011 2012
CUI: C4048158
Disease: Convulsions
Convulsions
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 117 0.310 1.000 2 2006 2012
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 234 3 0.310 strong 1.000 1 2010 2010
CUI: C0422853
Disease: Olfactory seizure
Olfactory seizure
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2012 2012
CUI: C0422852
Disease: Seizures, Auditory
Seizures, Auditory
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 100 0.300 1 2012 2012
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 114 1 0.300 1 2012 2012
CUI: C3495874
Disease: Nonepileptic Seizures
Nonepileptic Seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2012 2012
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 103 0.300 1 2012 2012
CUI: C0234533
Disease: Generalized seizures
Generalized seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 125 4 0.300 1 2012 2012
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 108 0.300 1 2012 2012
CUI: C0422850
Disease: Seizures, Somatosensory
Seizures, Somatosensory
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 100 0.300 1 2012 2012
CUI: C0422855
Disease: Vertiginous seizure
Vertiginous seizure
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2012 2012
CUI: C0422854
Disease: Gustatory seizure
Gustatory seizure
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 100 0.300 1 2012 2012
CUI: C0270824
Disease: Visual seizure
Visual seizure
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 206 0.300 1 2012 2012
CUI: C0234535
Disease: Seizures, Clonic
Seizures, Clonic
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2012 2012
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 115 6 0.300 1 2012 2012