Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0085390 Li-Fraumeni Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease 76 206
C0334586 Pleomorphic Xanthoastrocytoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 42 8
C0153574 Malignant Uterine Corpus Neoplasm disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 26 152
C0279663 Serous cystadenocarcinoma ovary disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 24 99
C2675080 Li-Fraumeni-Like Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease 10 8
C1835398 LI-FRAUMENI SYNDROME 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 1 39