Source: GWASCAT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 633 1159
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 607 1133
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 308 766
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 295 731
C0200641 Blood basophil count (lab test) phenotype Laboratory Procedure 272 452
C0032181 Platelet Count measurement phenotype Laboratory Procedure 264 456
C0038013 Ankylosing spondylitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 160 345
C0200635 Lymphocyte Count measurement phenotype Laboratory Procedure 130 199
C1527304 Allergic Reaction phenotype Immune System Diseases Pathologic Function disease of anatomical entity 104 234
C0264408 Childhood asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 101 193
C3150797 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 disease Finding 81 130
C4014795 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 disease Disease or Syndrome 81 130
C4310768 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 disease Disease or Syndrome 81 130
C0035242 Respiratory Tract Diseases group Respiratory Tract Diseases Disease or Syndrome 77 109
C0337428 Fibrinogen assay phenotype Laboratory Procedure 52 116
C0920350 Autoimmune thyroiditis disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 44 66
C3495559 Juvenile arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 40 60
C0523677 Glycine measurement phenotype Laboratory Procedure 32 68
C0741260 Adult onset asthma disease Disease or Syndrome 29 62
C0009447 Common Variable Immunodeficiency disease Immune System Diseases Disease or Syndrome disease of anatomical entity 28 46
C0087031 Juvenile-Onset Still Disease disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 27 41
C1384600 Systemic onset juvenile chronic arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 27 41
C1858558 Rheumatoid Arthritis, Systemic Juvenile disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 27 41
C2931171 Juvenile pauciarticular chronic arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 24 31