CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 607 1133
C0205682 Waist-Hip Ratio phenotype Organism Attribute 562 1128
C0200641 Blood basophil count (lab test) phenotype Laboratory Procedure 272 452
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
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
C0024141 Lupus Erythematosus, Systemic disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 185 439
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
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 146 280
C0200635 Lymphocyte Count measurement phenotype Laboratory Procedure 130 199
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
C1527304 Allergic Reaction phenotype Immune System Diseases Pathologic Function disease of anatomical entity 104 234
C0011854 Diabetes Mellitus, Insulin-Dependent disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 104 198
C0264408 Childhood asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 101 193
C0035242 Respiratory Tract Diseases group Respiratory Tract Diseases Disease or Syndrome 77 109
C0202202 Protein measurement group Laboratory Procedure 62 74
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
C0011615 Dermatitis, Atopic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 44 89
C0019829 Hodgkin Disease disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 30 41
C0741260 Adult onset asthma disease Disease or Syndrome 29 62
C0023892 Biliary cirrhosis disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 21 35
C0341106 Eosinophilic esophagitis disease Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 21 31
C0002171 Alopecia Areata disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 16 29