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.
Refractory juvenile myoclonic epilepsy
disease Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
Sudden Unexplained Death in Childhood
disease Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3
disease Nervous System Diseases Disease or Syndrome 2 14 0.700 moderate 1.000 17 14 2000 2018
CUI: C0393676
Disease: Panayiotopoulos Syndrome
Panayiotopoulos Syndrome
disease Nervous System Diseases Disease or Syndrome 2 0.030 None 0.667 3 2009 2017
SCN8A-related epilepsy with encephalopathy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 52 0.010 None 1.000 1 2016 2016
CUI: C3698357
Disease: Refractory myoclonic epilepsy
Refractory myoclonic epilepsy
disease Nervous System Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 1 2013 2013
CUI: C2751756
Disease: Febrile Convulsions, Familial, 3a
Febrile Convulsions, Familial, 3a
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 1 0.100 None 0 1
CUI: C0270857
Disease: Epilepsy, Reflex
Epilepsy, Reflex
disease Nervous System Diseases Disease or Syndrome 3 0.010 None < 0.001 1 2017 2017
Hemiplegia-hemiconvulsion-epilepsy syndrome
disease Nervous System Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 2013 2013
EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS
disease Nervous System Diseases Disease or Syndrome 3 2 0.010 None 1.000 1 2011 2011
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size
phenotype Anatomical Abnormality 3 2 0.100 None 0 1
Early Infantile Epileptic Encephalopathy 6
disease Nervous System Diseases Disease or Syndrome 4 392 0.800 None 1.000 75 390 2000 2018
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 4 58 0.730 None 1.000 39 58 2000 2012
Generalized Nonconvulsive Seizure Disorder
disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2011 2011
CUI: C0086236
Disease: Epilepsy, Atonic
Epilepsy, Atonic
disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2011 2011
CUI: C0086241
Disease: Epilepsy, Tonic
Epilepsy, Tonic
disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2011 2011
CUI: C0347869
Disease: Epilepsy, Akinetic
Epilepsy, Akinetic
disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2011 2011
CUI: C0270854
Disease: Symptomatic Generalized Epilepsy
Symptomatic Generalized Epilepsy
disease Nervous System Diseases Disease or Syndrome 5 0.310 None 1.000 2 2009 2011
CUI: C0701811
Disease: Poor short-term memory
Poor short-term memory
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 5 1 0.010 None 1.000 1 1 2012 2012
CUI: C2349453
Disease: Familial migraine
Familial migraine
disease Disease or Syndrome 5 0.010 None 1.000 1 2009 2009
CUI: C1846620
Disease: Hemiclonic seizures
Hemiclonic seizures
phenotype Nervous System Diseases Finding 5 0.100 None 0
CUI: C4085238
Disease: MYOCLONIC-ATONIC EPILEPSY
MYOCLONIC-ATONIC EPILEPSY
disease Disease or Syndrome 6 16 0.030 None 1.000 3 2005 2012
CUI: C0311334
Disease: Generalized convulsive epilepsy
Generalized convulsive epilepsy
disease Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2011 2011
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT
disease Disease or Syndrome 6 5 0.100 None 0 1
CUI: C4023479
Disease: EEG with focal sharp slow waves
EEG with focal sharp slow waves
phenotype Finding 6 0.100 None 0