Source: CURATED ×
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: 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 6 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: C3809311
Disease: ATRIAL FIBRILLATION, FAMILIAL, 13
ATRIAL FIBRILLATION, FAMILIAL, 13 		disease Disease or Syndrome 1 3 0.700 limited 1.000 3 3 2005 2016
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 9 1 0.700 None 1.000 0 1 2000 2011
CUI: C2748542
Disease: CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 11 4 0.600 disputed 1.000 7 2 2008 2017
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 4 3 1970 2019
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 24 118 0.550 disputed 1.000 7 2008 2019
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 234 0.500 disputed 1.000 7 2008 2017
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 9 24 0.430 None 1.000 1 2002 2014
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 13 0.400 None 0.929 4 2002 2019
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 11 0.300 disputed 1.000 7 2008 2017
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 11 0.300 disputed 1.000 7 2008 2017
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 11 0.300 disputed 1.000 7 2008 2017
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 15 1 0.300 disputed 1.000 7 2008 2017
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 4 16 0.300 None 1.000 1 2008 2008
CUI: C0751057
Disease: Seizure, Febrile, Complex
Seizure, Febrile, Complex 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2014 2014
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: C0149886
Disease: Seizure, Febrile, Simple
Seizure, Febrile, Simple 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2014 2014
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 12 13 0.300 None 1.000 1 2012 2012
CUI: C1721096
Disease: Brugada ECG Pattern
Brugada ECG Pattern 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding 4 0.300 None 1.000 1 2012 2012