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, 24
disease Disease or Syndrome 1 9 0.700 None 1.000 3 9 2014 2018
CUI: C0270824
Disease: Visual seizure
Visual seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.500 None 1.000 2 2008 2010
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.440 None 1.000 5 2008 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.400 None 1.000 12 2003 2020
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 140 5 0.400 None 1.000 1 2010 2010
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 143 6 0.400 None 1.000 1 2010 2010
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 205 8 0.400 None 1.000 1 2010 2010
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.400 None 1.000 1 2009 2009
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.400 None 1.000 1 2009 2009
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.400 None 1.000 1 2010 2010
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.320 None 1.000 3 2012 2018
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
disease Nervous System Diseases Disease or Syndrome 53 122 0.320 None 1.000 2 2014 2018
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.310 None 1.000 2 2012 2018
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 192 65 0.310 None 1.000 2 2003 2005
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 250 7 0.310 None 1.000 2 2010 2012
CUI: C4048158
Disease: Convulsions
Convulsions
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 174 4 0.310 None 1.000 2 2010 2019
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 1 2003 2003
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.300 None 1.000 1 2011 2011
CUI: C0040822
Disease: Tremor
Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.300 None 1.000 1 2015 2015
CUI: C0751123
Disease: Atonic Absence Seizures
Atonic Absence Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2010 2010
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 117 0.300 None 1.000 1 2010 2010
Generalized Epilepsy with Febrile Seizures Plus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 13 0.300 None 1.000 1 2018 2018
CUI: C0751496
Disease: Seizures, Sensory
Seizures, Sensory
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 0.300 None 1.000 1 2010 2010
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.300 None 1.000 1 2010 2010
CUI: C0751110
Disease: Single Seizure
Single Seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2010 2010