CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
C0017654 Glomerular Filtration Rate phenotype Diagnostic Procedure 399 1031
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 321 675
C0010346 Crohn Disease disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 239 616
C0033860 Psoriasis disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 237 485
C0009324 Ulcerative Colitis disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 211 464
C0600139 Prostate carcinoma disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 172 374
C0007102 Malignant tumor of colon disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 165 368
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 165 368
C0009404 Colorectal Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 165 368
C0346629 Malignant neoplasm of large intestine disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 165 368
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 165 368
C1837315 COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 disease Finding 165 368
C2675481 COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 disease Finding 165 368
C2677123 COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 phenotype Finding 165 368
C3554460 COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 disease Finding 165 368
C0038013 Ankylosing spondylitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 160 345
C0008313 Cholangitis, Sclerosing disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 149 276
C0428886 Mean blood pressure phenotype Finding 136 326
C0684249 Carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 107 198
C0005845 Blood urea nitrogen measurement phenotype Laboratory Procedure 90 174
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 67 111
C0149782 Squamous cell carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 66 110
C0919267 ovarian neoplasm disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 61 106