Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 45 172
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
C0349788 Arrhythmogenic Right Ventricular Dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality disease of anatomical entity 11 108
C0018802 Congestive heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 8 9
C4021133 Left ventricular noncompaction cardiomyopathy disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the cardiovascular system 7 14
C0149630 Bicuspid aortic valve disease Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 7 7
C0085298 Sudden Cardiac Death phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function Abnormality of the cardiovascular system 6 5
C4551647 Long QT Syndrome 1 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 73
C1836906 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 5 61
C0008031 Chest Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom; Abnormality of the skeletal system 4 5
C0023212 Left-Sided Heart Failure disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 4
C2063326 Right ventricular cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 4
C0011071 Sudden death phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 4 3
C0018790 Cardiac Arrest disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 4 3
C0085612 Ventricular arrhythmia disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 3
C0042514 Tachycardia, Ventricular disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 3 4
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
C0042510 Ventricular Fibrillation disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 2 3
C0265004 Dilatation of aorta phenotype Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2 2
C1843896 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 66
C1854063 Cardiomyopathy dilated with Woolly hair and keratoderma disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1 54
C4014393 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS disease Disease or Syndrome 1 8
C1843292 Skin Fragility-Woolly Hair Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 6