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.
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 9 0.300 0
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 166 0.300 limited 0
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 15 9 0.300 0
CUI: C0744641
Disease: Intermittent migraine headaches
Intermittent migraine headaches
disease Disease or Syndrome 94 0.100 0
CUI: C0027066
Disease: Myoclonus
Myoclonus
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 153 11 0.100 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 459 34 0.100 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 116 2 0.100 0
CUI: C1851936
Disease: Paroxysmal choreoathetosis
Paroxysmal choreoathetosis
phenotype Finding 3 0.100 0
CUI: C0234428
Disease: Disturbance of consciousness
Disturbance of consciousness
phenotype Finding 21 0.100 0
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 11 0.100 0
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 411 202 0.100 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease Nervous System Diseases Disease or Syndrome 12 0.100 0
CUI: C0683322
Disease: Mental impairment
Mental impairment
disease Mental or Behavioral Dysfunction 181 3 0.100 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 172 10 0.100 0
CUI: C0234533
Disease: Generalized seizures
Generalized seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 125 4 0.100 0
CUI: C0234967
Disease: Choreoathetoid movements
Choreoathetoid movements
phenotype Finding 45 0.100 0
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 289 198 0.100 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis
disease Disease or Syndrome 52 1 0.100 0
CUI: C0392699
Disease: Dysesthesia
Dysesthesia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 16 3 0.100 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
phenotype Finding 102 0.100 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
phenotype Finding 946 0.100 0
CUI: C0424688
Disease: Small head
Small head
phenotype Finding 569 57 0.100 0
CUI: C1704276
Disease: Spasmodic movement
Spasmodic movement
phenotype Sign or Symptom 122 0.100 0
CUI: C1833488
Disease: Infrequent generalized seizures
Infrequent generalized seizures
phenotype Finding 12 0.100 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
phenotype Finding 48 1 0.100 0