Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0023212 Left-Sided Heart Failure disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 4
C0085612 Ventricular arrhythmia disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 3
C0151636 Premature ventricular contractions phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 3
C0175709 Centronuclear myopathy disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 4 12
C1839832 Noncompaction cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 5
C0281788 Biventricular hypertrophy disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 3 2
C0702166 Acne disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 3 4
C0151517 Complete atrioventricular block disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 2 1
C0340477 Re-entrant atrioventricular tachycardia disease Disease or Syndrome Abnormality of the cardiovascular system 2 2
C0428974 Supraventricular arrhythmia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 2 1
C1836118 LEFT VENTRICULAR NONCOMPACTION 2 disease Disease or Syndrome 2 1
C1837342 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 2 230
C1838244 TIBIAL MUSCULAR DYSTROPHY, TARDIVE disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 17
C1858763 Cardiomyopathy, Dilated, 1g disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 306
C1861065 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 2 7
C1863599 Hereditary Myopathy with Early Respiratory Failure disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 2 15
C2673677 Myopathy, Early-Onset, with Fatal Cardiomyopathy disease Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 11
C4024201 Low-output congestive heart failure disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 2 1
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 336 579
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 63 77
C4281993 Neonatal respiratory distress phenotype Respiratory Tract Diseases Finding Abnormality of the respiratory system 31 34
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 26 29
C1836150 Gait imbalance phenotype Finding Abnormality of the nervous system 20 24
C0856863 Broad-based gait phenotype Finding Abnormality of the nervous system 19 24
C0423112 Short palpebral fissure phenotype Finding Abnormality of head or neck 15 16