CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0003873 Rheumatoid Arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 282 1613
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 278 652
C0489786 Height phenotype Organism Attribute 249 517
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 143 477
C1836230 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO disease Finding 61 365
C1836231 HIV-1, RESISTANCE TO phenotype Finding 61 365
C1836232 ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO phenotype Finding 61 365
C1836233 AIDS, PROGRESSION TO phenotype Finding 61 365
C1527304 Allergic Reaction phenotype Immune System Diseases Pathologic Function disease of anatomical entity 55 819
C0004943 Behcet Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 17 40
C0038013 Ankylosing spondylitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 14 39