Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0011847 Diabetes disease Endocrine System Diseases Disease or Syndrome disease of metabolism 2359 710
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1800 1022
C0019196 Hepatitis C disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 1768 347
C0041296 Tuberculosis disease Infections Disease or Syndrome 1256 328
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C0036421 Systemic Scleroderma disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 979 287
C0021400 Influenza disease Infections; Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity; disease by infectious agent 858 17
C0010674 Cystic Fibrosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome genetic disease 852 704
C0038013 Ankylosing spondylitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 710 609
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 681 1322
C0004623 Bacterial Infections group Infections Disease or Syndrome disease by infectious agent 616 17
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 610 1144
C0409974 Lupus Erythematosus disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 558 44
C0018799 Heart Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 537 45
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
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 502 243
C0021053 Immune System Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity 451 116
C3495559 Juvenile arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 450 128
C0003872 Arthritis, Psoriatic disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome syndrome 450 89
C0155877 Allergic asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 371 55
C0041327 Tuberculosis, Pulmonary disease Infections; Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity; disease by infectious agent 358 171
C0200635 Lymphocyte Count measurement phenotype Laboratory Procedure 338 456
C0026896 Myasthenia Gravis disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 336 93
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