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
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 43 443
C0003886 Arthrogryposis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 16 25
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
C0043202 Wolff-Parkinson-White Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity; syndrome Abnormality of the cardiovascular system 14 16
C0340427 Familial dilated cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 10 32
C1960469 Left ventricular noncompaction disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 8 19
C4021133 Left ventricular noncompaction cardiomyopathy disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the cardiovascular system 7 14
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
C0004238 Atrial Fibrillation disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2 2
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
C0037052 Sick Sinus Syndrome disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1 1
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
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