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: C2751089
Disease: Brugada Syndrome 6
Brugada Syndrome 6 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 1 2 0.600 limited 1.000 2 2 2005 2016
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 24 118 0.510 disputed 1.000 4 2005 2012
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 29 0.330 None 1.000 2 1991 2007
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 9 0.310 None 1.000 2 2002 2004
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 11 245 0.310 None 1.000 1 2009 2009