Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4552004 Distal Myopathy 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 35
C4021133 Left ventricular noncompaction cardiomyopathy disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the cardiovascular system 7 14
C0027868 Neuromuscular Diseases group Nervous System Diseases Disease or Syndrome disease of anatomical entity 11 38
C0949658 Cardiomyopathy, Hypertrophic, Familial disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 24 332
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 43 443