CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027651 Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 10161 1644
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6941 3417
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 6776 2793
C0596263 Carcinogenesis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355
C0029463 Osteosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the skeletal system 2283 178
C0585442 Osteosarcoma of bone disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2247 151
C1332986 Childhood Osteosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2208 151
C2985280 Blood Protein Measurement phenotype Laboratory Procedure 1156 2575
C3887461 Head and Neck Carcinoma disease Neoplasms Neoplastic Process disease of cellular proliferation 786 118
C0278996 Malignant Head and Neck Neoplasm disease Neoplasms Neoplastic Process Neoplasm 767 118
C0085605 Liver Failure disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 293 20
C0005612 Birth Weight phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 214 369
C0039263 Takayasu Arteritis disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome syndrome 136 55