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: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.130 None 0.950 20 1 1998 2016
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 63 32 0.400 None 0.929 14 3 2002 2019
CUI: C2748541
Disease: Brugada Syndrome 5
Brugada Syndrome 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 1 3 0.600 None 1.000 10 3 1970 2019
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		disease Nervous System Diseases Disease or Syndrome 57 43 0.100 None 0.900 10 3 2006 2019
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy with Febrile Seizures Plus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 13 0.700 None 1.000 10 1 2000 2011
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease Nervous System Diseases Disease or Syndrome 93 36 0.090 None 1.000 9 1998 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.090 None 1.000 9 2 2002 2018
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 5 0.710 None 1.000 7 5 1998 2019
CUI: C4479236
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 		disease Disease or Syndrome 1 4 0.700 None 1.000 5 4 1998 2016
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 192 65 0.430 None 1.000 4 2002 2014
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.040 None 1.000 4 2 2009 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.130 None 1.000 3 1 2017 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.130 None 1.000 3 2008 2014
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 105 349 0.020 None 1.000 2 2008 2014
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		disease Nervous System Diseases Disease or Syndrome 46 2 0.020 None 1.000 2 2007 2017
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 13 0.010 None 1.000 1 2000 2000
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 0.010 None 1.000 1 2006 2006
CUI: C0751057
Disease: Seizure, Febrile, Complex
Seizure, Febrile, Complex 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 19 1 0.300 None 1.000 1 2014 2014
CUI: C0149886
Disease: Seizure, Febrile, Simple
Seizure, Febrile, Simple 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 13 0.300 None 1.000 1 2014 2014
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 7 16 0.300 None 1.000 1 2008 2008
CUI: C2721586
Disease: Sudden arrhythmic death syndrome
Sudden arrhythmic death syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 22 1 0.300 None 1.000 1 2009 2009
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		disease Nervous System Diseases Disease or Syndrome 46 81 0.100 None 1.000 1 1 2018 2018
CUI: C0391958
Disease: Familial Epilepsies
Familial Epilepsies 		disease Nervous System Diseases Disease or Syndrome 16 2 0.010 None 1.000 1 2014 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2017 2017