Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350
C0855329 Electrocardiogram change phenotype Finding 18 27
C0023976 Long QT Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 16 245
C0340427 Familial dilated cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 10 32
C1858430 Death in infancy phenotype Finding 6 7
C0035828 Romano-Ward Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 5 15
C1141890 Congenital long QT syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 5 21
C0340493 Paroxysmal familial ventricular fibrillation disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 3 3
C1142166 Brugada Syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 3 103
C2748542 CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 3 4
C0038644 Sudden infant death syndrome disease Pathological Conditions, Signs and Symptoms Disease or Syndrome syndrome 2 5
C1879286 Hereditary bundle branch system defect disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 7
C3276240 LONG QT SYNDROME 2/3, DIGENIC disease Disease or Syndrome genetic disease; disease of anatomical entity 2 2
C3276241 LONG QT SYNDROME 3/6, DIGENIC Disorder disease Disease or Syndrome genetic disease; disease of anatomical entity 2 2
C4022012 Death in early adulthood phenotype Finding 2 2
C0428908 Sinus Node Dysfunction (disorder) disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 1
C1832680 CARDIOMYOPATHY, DILATED, 1E disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 11
C1837845 SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1 8
C1838527 LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO (finding) disease Finding genetic disease; disease of anatomical entity 1 1
C1859062 LONG QT SYNDROME 3 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 30
C1861983 Heart Block, Nonprogressive disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 1
C1861984 Cardiac Conduction Defect, Nonprogressive disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 1
C2751898 Ventricular Fibrillation, Paroxysmal Familial, 1 disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1 3
C3151464 ATRIAL FIBRILLATION, FAMILIAL, 10 disease Disease or Syndrome disease of anatomical entity 1 9
C4016652 ATRIAL STANDSTILL 1, DIGENIC disease Finding 1 1