CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1319315 Adenocarcinoma of large intestine disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 54 41
C0278883 Metastatic melanoma disease Neoplasms Neoplastic Process 54 20
C4225418 MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 disease Disease or Syndrome 1 5