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
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
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
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
C3151520 Early severe fetal akinesia sequence phenotype Finding Abnormality of prenatal development or birth 12 15
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
C0039070 Syncope phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the cardiovascular system 8 12
C4021133 Left ventricular noncompaction cardiomyopathy disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the cardiovascular system 7 14
C1858430 Death in infancy phenotype Finding 6 7
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
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
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
C0340493 Paroxysmal familial ventricular fibrillation disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 3 3
C0002962 Angina Pectoris phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom Abnormality of the cardiovascular system 2 51
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
C0038644 Sudden infant death syndrome disease Pathological Conditions, Signs and Symptoms Disease or Syndrome syndrome 2 5
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
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
C4551804 Brugada Syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 34