CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 685 1141
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 623 1003
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 607 1133
C0017654 Glomerular Filtration Rate phenotype Diagnostic Procedure 399 1031
C0200641 Blood basophil count (lab test) phenotype Laboratory Procedure 272 452
C0202239 Uric acid measurement (procedure) phenotype Laboratory Procedure 254 550
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
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
C0013595 Eczema disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 129 198
C0201976 Creatinine measurement, serum (procedure) phenotype Laboratory Procedure 124 243
C0020676 Hypothyroidism disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 104 185
C0149745 Oral Ulcer disease Stomatognathic Diseases Disease or Syndrome Abnormality of head or neck 50 94
C0008312 Primary biliary cirrhosis disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 49 107
C0036421 Systemic Scleroderma disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 46 98
C2607914 Allergic rhinitis (disorder) disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of head or neck 46 72