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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.400 strong 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
phenotype Finding 946 0.100 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased
phenotype Finding 51 8 0.100 0 1
CUI: C1850493
Disease: Psychomotor regression, progressive
Psychomotor regression, progressive
phenotype Finding 149 0.100 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Finding 231 8 0.100 0 1
CUI: C1854302
Disease: Involuntary jerking movements
Involuntary jerking movements
phenotype Finding 122 0.100 0
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype Finding 81 12 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
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0 1
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: C0027066
Disease: Myoclonus
Myoclonus
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 153 11 0.100 0
CUI: C1704276
Disease: Spasmodic movement
Spasmodic movement
phenotype Sign or Symptom 122 0.100 0
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology
phenotype Anatomical Abnormality 12 0.100 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype Finding 140 5 0.100 0
CUI: C0746940
Disease: Nonverbal
Nonverbal
phenotype Finding 75 0.100 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia
phenotype Nervous System Diseases Finding 50 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: C3887898
Disease: Infantile Spasm
Infantile Spasm
disease Disease or Syndrome 47 14 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
Delayed speech and language development
phenotype Finding 219 39 0.100 0 1
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 207 27 0.100 0 2