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: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures
phenotype Finding 11 1 0.100 0
CUI: C0085639
Disease: Falls
Falls
phenotype Finding 13 0.100 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 233 19 0.100 0
CUI: C1836509
Disease: Hypotonic seizures
Hypotonic seizures
phenotype Finding 15 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: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1
disease Disease or Syndrome 6 0.300 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology
phenotype Finding 10 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: C4476550
Disease: Sudden loss of muscle tone
Sudden loss of muscle tone
phenotype Finding 15 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: C0424323
Disease: Physical aggression
Physical aggression
phenotype Individual Behavior 107 0.100 0
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 708 59 0.100 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
phenotype Finding 946 0.100 0
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure
disease Disease or Syndrome 6 0.100 0
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 114 1 0.100 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.100 0
CUI: C1457883
Disease: Aggressive reaction
Aggressive reaction
phenotype Mental or Behavioral Dysfunction 109 0.100 0
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
phenotype Mental Disorders Mental or Behavioral Dysfunction 52 6 0.100 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.100 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 77 16 0.100 0
CUI: C0031212
Disease: Personality Disorders
Personality Disorders
group Mental Disorders Mental or Behavioral Dysfunction 26 9 0.100 0
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 313 807 0.100 0 1