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: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		disease Disease or Syndrome 1 104 0.700 None 1.000 50 104 1998 2016
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		disease Disease or Syndrome 1 91 0.700 None 1.000 34 91 1998 2018
CUI: C0393693
Disease: Benign Neonatal Epilepsy, Nonfamilial
Benign Neonatal Epilepsy, Nonfamilial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.310 None 1.000 3 2009 2016
CUI: C2751195
Disease: Epilepsy, Benign Neonatal, 1, And-Or Myokymia
Epilepsy, Benign Neonatal, 1, And-Or Myokymia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C3149075
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA
SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA 		disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C3151685
Disease: Seizures in the newborn, refractory
Seizures in the newborn, refractory 		disease Disease or Syndrome 2 0.020 None 1.000 2 2005 2012
CUI: C4551769
Disease: Convulsions, Benign Familial Infantile, 1
Convulsions, Benign Familial Infantile, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 2 2009 2016
CUI: C0265482
Disease: Ring Chromosome 20 Syndrome
Ring Chromosome 20 Syndrome 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 3 0.010 None 1.000 1 2008 2008
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		disease Disease or Syndrome 3 43 0.010 None 1.000 1 2017 2017
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 46 0.310 None 1.000 3 2009 2016
CUI: C3806403
Disease: Continuous spike and waves during slow sleep
Continuous spike and waves during slow sleep 		disease Disease or Syndrome 5 2 0.010 None 1.000 1 1 2017 2017
CUI: C0270851
Disease: Benign neonatal epilepsy
Benign neonatal epilepsy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 2 0.590 None 1.000 13 1 2000 2019
CUI: C0239488
Disease: Facial erythema
Facial erythema 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 6 0.100 None 0
CUI: C0863106
Disease: Afebrile seizure
Afebrile seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2013 2013
CUI: C1704431
Disease: Disorder of electrolytes
Disorder of electrolytes 		disease Nutritional and Metabolic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2006 2006
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
EPILEPSY, BENIGN NEONATAL, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 20 0.200 None 0.962 26 8 1999 2019
CUI: C3889476
Disease: Benign Familial Convulsion
Benign Familial Convulsion 		disease Nervous System Diseases Disease or Syndrome 9 7 0.100 None 0.952 21 3 1999 2019
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 10 7 0.010 None 1.000 1 2018 2018
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		disease Disease or Syndrome 11 76 0.100 None 1.000 8 8 2003 2017
CUI: C3494976
Disease: Migrating partial seizures in infancy
Migrating partial seizures in infancy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2006 2006
CUI: C0014122
Disease: Subacute Bacterial Endocarditis
Subacute Bacterial Endocarditis 		disease Infections; Cardiovascular Diseases Disease or Syndrome 12 1 0.010 None 1.000 1 2009 2009
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		disease Nervous System Diseases Disease or Syndrome 12 30 0.100 None 1.000 1 1 2005 2005
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures 		disease Nervous System Diseases Disease or Syndrome 12 1 0.100 None 0
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 9 0.010 None 1.000 1 2006 2006