CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 26 340
C0270914 Hereditary Motor and Sensory-Neuropathy Type II disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of anatomical entity 5 66
C1449563 Cardiomyopathy, Familial Idiopathic disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 2 28
C1834653 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1 18