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, 40
disease Disease or Syndrome 1 1 0.600 1 1 2017 2017
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease Nervous System Diseases Disease or Syndrome 66 14 0.300 0
CUI: C1850493
Disease: Psychomotor regression, progressive
Psychomotor regression, progressive
phenotype Finding 149 0.100 0
CUI: C1854302
Disease: Involuntary jerking movements
Involuntary jerking movements
phenotype Finding 122 0.100 0
CUI: C1855009
Disease: Psychomotor regression in infants
Psychomotor regression in infants
phenotype Finding 152 9 0.100 0
CUI: C1855019
Disease: Psychomotor regression
Psychomotor regression
phenotype Finding 149 0.100 0
Psychomotor regression beginning in infancy
phenotype Finding 149 0.100 0
CUI: C1857121
Disease: Neurodevelopmental regression
Neurodevelopmental regression
phenotype Finding 149 0.100 0
CUI: C1859678
Disease: Mental deterioration in childhood
Mental deterioration in childhood
phenotype Finding 149 0.100 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities
disease Mental or Behavioral Dysfunction 60 0.100 0
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm
disease Disease or Syndrome 47 14 0.100 0
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology
phenotype Anatomical Abnormality 12 0.100 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Disease or Syndrome 153 2 0.100 0
CUI: C1836550
Disease: Loss of developmental milestones
Loss of developmental milestones
phenotype Finding 149 0.100 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 195 2 0.100 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 352 9 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: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.100 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis
disease Disease or Syndrome 52 1 0.100 0
CUI: C0234967
Disease: Choreoathetoid movements
Choreoathetoid movements
phenotype Finding 45 0.100 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Disease or Syndrome 337 21 0.100 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.100 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia
phenotype Nervous System Diseases Finding 50 0.100 0
CUI: C1704276
Disease: Spasmodic movement
Spasmodic movement
phenotype Sign or Symptom 122 0.100 0
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.100 0