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: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome
disease Disease or Syndrome 3 35 0.630 1.000 16 35 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 0.610 strong 1.000 2 2008 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 234 3 0.590 strong 1.000 9 2005 2016
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.430 1.000 4 2008 2014
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.400 1 2008 2008
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 0.320 1.000 2 2010 2013
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 128 293 0.300 1.000 28 2 2008 2017
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 128 3 0.300 1 2008 2008
CUI: C3495874
Disease: Nonepileptic Seizures
Nonepileptic Seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2008 2008
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 137 0.300 1 2008 2008
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 103 0.300 1 2008 2008
CUI: C0022333
Disease: Jacksonian Seizure
Jacksonian Seizure
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2008 2008
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 2008 2008
CUI: C0234535
Disease: Seizures, Clonic
Seizures, Clonic
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2008 2008
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 435 13 0.300 1 2013 2013
CUI: C0234533
Disease: Generalized seizures
Generalized seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 125 4 0.300 1 2008 2008
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 32 0.300 1 2008 2008
CUI: C0422855
Disease: Vertiginous seizure
Vertiginous seizure
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2008 2008
CUI: C4505436
Disease: Generalized Absence Seizures
Generalized Absence Seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2008 2008
CUI: C0422853
Disease: Olfactory seizure
Olfactory seizure
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2008 2008
CUI: C0422852
Disease: Seizures, Auditory
Seizures, Auditory
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 100 0.300 1 2008 2008
CUI: C0422850
Disease: Seizures, Somatosensory
Seizures, Somatosensory
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 100 0.300 1 2008 2008
CUI: C0270824
Disease: Visual seizure
Visual seizure
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 206 0.300 1 2008 2008
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 2008 2008
CUI: C0422854
Disease: Gustatory seizure
Gustatory seizure
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 100 0.300 1 2008 2008