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
C0026848 Myopathy group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 37 63
C0949658 Cardiomyopathy, Hypertrophic, Familial disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 24 332
C0241005 Creatine phosphokinase serum increased phenotype Finding genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 23 42
C1866008 Muscular Dystrophy, Limb-Girdle, Type 2G disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1 5
C4225408 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 disease Disease or Syndrome disease of anatomical entity 1 5