CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0005684 Malignant neoplasm of urinary bladder disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 3 6
C0022603 Seborrheic keratosis disease Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity Abnormality of the integument; Neoplasm 2 11
C0334082 NEVUS, EPIDERMAL (disorder) disease Neoplasms Disease or Syndrome disease of anatomical entity Abnormality of the integument 2 6
C1868678 THANATOPHORIC DYSPLASIA, TYPE I (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 1 6