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
C1858763 Cardiomyopathy, Dilated, 1g disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 306
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