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: C0270846
Disease: Epileptic drop attack
Epileptic drop attack
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 143 6 0.100 None 0
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures
disease Nervous System Diseases Disease or Syndrome 12 1 0.100 None 0
Generalized tonic-clonic seizures with focal onset
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 23 1 0.100 None 0
CUI: C0030232
Disease: Pallor
Pallor
phenotype Pathological Conditions, Signs and Symptoms Finding 124 4 0.100 None 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 0 1
Photosensitive tonic-clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 14 1 0.100 None 0
CUI: C1846620
Disease: Hemiclonic seizures
Hemiclonic seizures
phenotype Nervous System Diseases Finding 5 0.100 None 0
CUI: C1847164
Disease: Morning myoclonic jerks
Morning myoclonic jerks
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 11 0.100 None 0
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0
CUI: C0026633
Disease: Mouth Abnormalities
Mouth Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 26 0.100 None 0
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.100 None 0
CUI: C0679136
Disease: Low self-esteem
Low self-esteem
phenotype Behavior and Behavior Mechanisms Finding 10 0.100 None 0
Complex partial seizure with impairment of consciousness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 41 10 0.100 None 0
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 98 8 0.100 None 0
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype Skin and Connective Tissue Diseases Pathologic Function 91 3 0.100 None 0
CUI: C0476254
Disease: Dyslexia
Dyslexia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 118 30 0.100 None 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
phenotype Finding 45 6 0.100 None 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype Nervous System Diseases Finding 227 27 0.100 None 0
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 140 5 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 151 14 0.100 None 0
CUI: C0020578
Disease: Hyperventilation
Hyperventilation
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 31 2 0.100 None 0
CUI: C1854686
Disease: Uncontrolled eye movements
Uncontrolled eye movements
phenotype Finding 7 0.100 None 0
CUI: C1855568
Disease: Jerky head movements
Jerky head movements
phenotype Finding 10 0.100 None 0
EEG with spike-wave complexes (2.5-3.5 Hz)
phenotype Finding 6 0.100 None 0