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: C4693694
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 		disease Disease or Syndrome 1 4 0.600 strong 1.000 2 4 2014 2017
CUI: C4693699
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		disease Disease or Syndrome 1 5 0.600 strong 1.000 2 5 2017 2018
CUI: C0751640
Disease: Cryptogenic Partial Complex Epilepsy
Cryptogenic Partial Complex Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2008 2008
CUI: C0751641
Disease: Epilepsy, Symptomatic, Partial Complex
Epilepsy, Symptomatic, Partial Complex 		disease Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2008 2008
CUI: C0085417
Disease: Epilepsy, Complex Partial
Epilepsy, Complex Partial 		disease Nervous System Diseases Disease or Syndrome 4 1 0.300 None 1.000 1 2008 2008
CUI: C3826394
Disease: Epilepsy in children
Epilepsy in children 		disease Nervous System Diseases Disease or Syndrome 12 1 0.010 None 1.000 1 2014 2014
CUI: C0159020
Disease: Convulsions in the newborn
Convulsions in the newborn 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 17 4 0.020 None 1.000 2 2012 2017
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 32 21 0.010 None 1.000 1 2015 2015
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		phenotype Finding 41 2 0.100 None 0
CUI: C0748607
Disease: Recurrent seizure
Recurrent seizure 		disease Nervous System Diseases Disease or Syndrome 44 1 0.010 None 1.000 1 2017 2017
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		disease Nervous System Diseases Disease or Syndrome 46 2 0.010 None 1.000 1 2017 2017
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		phenotype Finding 49 1 0.100 None 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease Nervous System Diseases Disease or Syndrome 53 122 0.010 None < 0.001 1 2018 2018
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		phenotype Pathological Conditions, Signs and Symptoms Finding 70 10 0.100 None 0
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		disease Nervous System Diseases Disease or Syndrome 73 23 0.320 moderate 1.000 2 2008 2014
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 77 12 0.100 None 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 86 7 0.100 None 0
CUI: C1720983
Disease: Channelopathies
Channelopathies 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.010 None 1.000 1 2018 2018
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		phenotype Eye Diseases Pathologic Function 125 2 0.100 None 0
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 126 30 0.010 None 1.000 1 2017 2017
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease Finding 127 8 0.100 None 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 143 14 0.100 None 0
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease Nervous System Diseases Disease or Syndrome 148 18 0.100 None 0
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 149 28 0.010 None 1.000 1 2018 2018
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype Nervous System Diseases Finding 152 7 0.100 None 0