Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 43 443
C0007959 Charcot-Marie-Tooth Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 24 52
C0340427 Familial dilated cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 10 32
C2678065 Myofibrillar Myopathy disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 7 15
C3151293 CARDIOMYOPATHY, DILATED, 1HH disease Disease or Syndrome genetic disease; disease of anatomical entity 1 20
C2751831 Myopathy, Myofibrillar, Bag3-Related disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 11