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: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.200 0.969 32 2005 2017
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm
disease Disease or Syndrome 47 14 0.200 1.000 23 2003 2015
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 233 19 0.100 1.000 10 2008 2013
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 207 1 0.090 0.889 9 2005 2016
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
group Nervous System Diseases Disease or Syndrome 249 14 0.070 1.000 7 2008 2010
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.170 1.000 7 2003 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.170 1.000 7 2008 2013
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease Nervous System Diseases Disease or Syndrome 58 6 0.060 1.000 6 2008 2017
Severe mental retardation (I.Q. 20-34)
disease Mental or Behavioral Dysfunction 223 19 0.040 1.000 4 2003 2010
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 42 2 0.030 1.000 3 2006 2011
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms
group Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 119 11 0.020 1.000 2 2005 2013
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 435 13 0.020 1.000 2 2006 2014
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 172 10 0.310 1.000 2 2011 2012
CUI: C4048158
Disease: Convulsions
Convulsions
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 117 0.310 1.000 2 2006 2012
CUI: C0751496
Disease: Seizures, Sensory
Seizures, Sensory
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 100 0.300 1 2012 2012
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome 6 12 0.010 < 0.001 1 2003 2003
CUI: C0422852
Disease: Seizures, Auditory
Seizures, Auditory
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 100 0.300 1 2012 2012
CUI: C0422854
Disease: Gustatory seizure
Gustatory seizure
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 100 0.300 1 2012 2012
CUI: C0422850
Disease: Seizures, Somatosensory
Seizures, Somatosensory
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 100 0.300 1 2012 2012
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
group Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 47 6 0.010 1.000 1 2013 2013
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease Mental or Behavioral Dysfunction 53 4 0.010 1.000 1 2016 2016
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 128 3 0.300 1 2012 2012
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15
disease Disease or Syndrome 3 0.200 1 2014 2014
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 2012 2012
CUI: C0422855
Disease: Vertiginous seizure
Vertiginous seizure
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 100 0.300 1 2012 2012