CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1074 1390
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 538 763
C1458155 Mammary Neoplasms group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 527 316
C1257931 Mammary Neoplasms, Human disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 525 0
C4704874 Mammary Carcinoma, Human disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 525 0
C0027627 Neoplasm Metastasis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 217 0
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 206 404
C0027626 Neoplasm Invasiveness phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Pathologic Function 184 0
C0151744 Myocardial Ischemia disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 176 0
C0017919 Glycogen Storage Disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 27 8
C0520572 Enzymopathy group Nutritional and Metabolic Diseases Disease or Syndrome 11 0
C0272066 Glycogen Storage Disease XII disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 3