Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0424295 Hyperactive behavior phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction Abnormality of the nervous system 1263 112
C0041296 Tuberculosis disease Infections Disease or Syndrome 1256 328
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 681 1322
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 610 1144
C0860207 Drug-Induced Liver Disease phenotype Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 537 29
C0024131 Lupus Vulgaris disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 526 44
C0002893 Refractory anemias disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 340 11
C0200635 Lymphocyte Count measurement phenotype Laboratory Procedure 338 456
C0151449 Primary Sjögren's syndrome disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 312 42
C1847835 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) disease Skin and Connective Tissue Diseases Disease or Syndrome 302 92
C0200641 Blood basophil count (lab test) phenotype Laboratory Procedure 272 452
C0333307 Superficial ulcer disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10
C0085655 Polymyositis disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 183 22
C3714757 Juvenile rheumatoid arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome Abnormality of the skeletal system 183 10
C0205734 Diabetes, Autoimmune disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 172 4
C0200633 Neutrophil count (procedure) phenotype Laboratory Procedure 145 234
C3840565 Autoimmune thyroid disease (AITD) disease Disease or Syndrome 133 54
C0022638 Ketosis disease Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 119 11
C0178468 Autoimmune thyroid disease disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 107 15
C0751356 Idiopathic Inflammatory Myopathies disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 106 4
C0035439 Rheumatic Heart Disease disease Infections; Cardiovascular Diseases Disease or Syndrome 102 33
C0857490 Granulocyte count phenotype Laboratory Procedure 100 150
C0701807 Acute anterior uveitis disease Eye Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of the eye 90 30
C2717865 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis disease Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 86 3