Source: GWASCAT

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
C0004364 Autoimmune Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 88 145
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 225 326
C0007570 Celiac Disease disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 87 178
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
C0009447 Common Variable Immunodeficiency disease Immune System Diseases Disease or Syndrome disease of anatomical entity 28 46
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
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
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
C0021390 Inflammatory Bowel Diseases group Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 178 354
C0024117 Chronic Obstructive Airway Disease disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 203 529
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
C0032181 Platelet Count measurement phenotype Laboratory Procedure 264 456
C0032460 Polycystic Ovary Syndrome disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome syndrome Abnormality of the genitourinary system 20 44
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
C0087031 Juvenile-Onset Still Disease disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 27 41
C0200635 Lymphocyte Count measurement phenotype Laboratory Procedure 130 199
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 607 1133
C0200641 Blood basophil count (lab test) phenotype Laboratory Procedure 272 452
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 295 731
C0264408 Childhood asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 101 193
C0337428 Fibrinogen assay phenotype Laboratory Procedure 52 116