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, 32
disease Disease or Syndrome 1 5 0.600 3 5 2015 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.600 strong 1 2015 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.430 strong 1.000 3 2015 2018
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.410 < 0.001 2 2015 2015
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 0.400 1 2015 2015
CUI: C4048158
Disease: Convulsions
Convulsions
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 117 0.310 < 0.001 2 2015 2015
Other generalized epilepsy and epileptic syndromes
disease Disease or Syndrome 2 0.300 strong 10 1997 2017
CUI: C0422853
Disease: Olfactory seizure
Olfactory seizure
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2015 2015
CUI: C0422850
Disease: Seizures, Somatosensory
Seizures, Somatosensory
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 100 0.300 1 2015 2015
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 172 10 0.300 1 2015 2015
CUI: C0454655
Disease: Semantic-Pragmatic Disorder
Semantic-Pragmatic Disorder
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 11 0.300 1 2015 2015
CUI: C0422855
Disease: Vertiginous seizure
Vertiginous seizure
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2015 2015
CUI: C0422854
Disease: Gustatory seizure
Gustatory seizure
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 100 0.300 1 2015 2015
CUI: C0422852
Disease: Seizures, Auditory
Seizures, Auditory
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 100 0.300 1 2015 2015
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 155 0.300 1 2015 2015
CUI: C0751056
Disease: Non-epileptic convulsion
Non-epileptic convulsion
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 100 0.300 1 2015 2015
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 0.300 1 2015 2015
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 122 2 0.300 1 2015 2015
CUI: C3495874
Disease: Nonepileptic Seizures
Nonepileptic Seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2015 2015
CUI: C0751496
Disease: Seizures, Sensory
Seizures, Sensory
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 100 0.300 1 2015 2015
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 128 3 0.300 1 2015 2015
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 108 0.300 1 2015 2015
Auditory Processing Disorder, Central
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 11 0.300 1 2015 2015
CUI: C0751123
Disease: Atonic Absence Seizures
Atonic Absence Seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2015 2015
CUI: C0751110
Disease: Single Seizure
Single Seizure
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2015 2015