CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4528257 Corpuscular Hemoglobin Concentration Mean phenotype Laboratory or Test Result 353 4267
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
C0027404 Narcolepsy disease Nervous System Diseases; Mental Disorders Disease or Syndrome disease of mental health Abnormality of the nervous system 202 436
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 201 488
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
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 109 253
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 104 332
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 72 122
C0242379 Malignant neoplasm of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 66 166
C0042900 Vitiligo disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 61 121
C0019829 Hodgkin Disease disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 23 52
C0036202 Sarcoidosis disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 20 697
C0149678 Epstein-Barr Virus Infections group Infections Disease or Syndrome 17 54
C0023343 Leprosy disease Infections Disease or Syndrome disease of anatomical entity; disease by infectious agent 13 27
C0020676 Hypothyroidism disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 11 42
C0017661 IGA Glomerulonephritis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 9 9
C0024301 Lymphoma, Follicular disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 7 22
C0030809 Pemphigus Vulgaris disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 6 23