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: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.410 None 1.000 2 2012 2014
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 103 7 0.020 None 1.000 2 2014 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.120 None 1.000 2 2014 2019
CUI: C0751110
Disease: Single Seizure
Single Seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2012 2012
CUI: C0270224
Disease: Tetany, Neonatal
Tetany, Neonatal
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
CUI: C0234535
Disease: Clonic Seizures
Clonic Seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 122 0.300 None 1.000 1 2012 2012
CUI: C0234533
Disease: Generalized seizures
Generalized seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 13 0.300 None 1.000 1 2012 2012
CUI: C0751123
Disease: Atonic Absence Seizures
Atonic Absence Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2012 2012
CUI: C1306341
Disease: Mental handicap
Mental handicap
disease Mental or Behavioral Dysfunction 26 1 0.010 None 1.000 1 2014 2014
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 140 5 0.300 None 1.000 1 2012 2012
CUI: C0039621
Disease: Tetany
Tetany
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Finding 24 1 0.300 None 1.000 1 2012 2012
CUI: C0270824
Disease: Visual seizure
Visual seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.300 None 1.000 1 2012 2012
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 108 0.300 None 1.000 1 2012 2012
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 143 6 0.300 None 1.000 1 2012 2012
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 117 0.300 None 1.000 1 2012 2012
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.300 None 1.000 1 2012 2012
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.300 None 1.000 1 2012 2012
CUI: C0751496
Disease: Seizures, Sensory
Seizures, Sensory
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 0.300 None 1.000 1 2012 2012
CUI: C0751056
Disease: Non-epileptic convulsion
Non-epileptic convulsion
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 0.300 None 1.000 1 2012 2012
CUI: C0422855
Disease: Vertiginous seizure
Vertiginous seizure
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2012 2012
CUI: C0917812
Disease: Tetanilla
Tetanilla
phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
CUI: C0422853
Disease: Olfactory seizure
Olfactory seizure
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2012 2012
CUI: C0422852
Disease: Seizures, Auditory
Seizures, Auditory
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 102 0.300 None 1.000 1 2012 2012
CUI: C0422850
Disease: Seizures, Somatosensory
Seizures, Somatosensory
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 102 0.300 None 1.000 1 2012 2012
CUI: C0037768
Disease: Spasmophilia
Spasmophilia
phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2012 2012