CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0004096 Asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 253 667
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
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
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
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
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
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 685 1141
C0018498 Hair Color phenotype Organism Attribute 126 294
C0018935 Hematocrit procedure phenotype Laboratory Procedure 138 216
C0022661 Kidney Failure, Chronic disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 107 236
C0027430 Nasal Polyps disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of head or neck 14 18
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
C0035242 Respiratory Tract Diseases group Respiratory Tract Diseases Disease or Syndrome 77 109
C0038013 Ankylosing spondylitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 160 345
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 295 731
C0202177 Phospholipid measurement phenotype Laboratory Procedure 30 60
C0202236 Triglycerides measurement phenotype Laboratory Procedure 324 837
C0346629 Malignant neoplasm of large intestine disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 165 368
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 353 951
C0428568 Fasting blood glucose measurement phenotype Laboratory Procedure 57 114
C0518015 Hemoglobin measurement phenotype Laboratory Procedure 129 209
C0523829 Phosphatidylcholine measurement phenotype Laboratory Procedure 9 19
C0524620 Metabolic Syndrome X disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; syndrome 55 124
C0700379 Total iron binding capacity function phenotype Clinical Attribute 20 35