CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027651 Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 10153 1571
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 2395 676
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 1686 635
C0004364 Autoimmune Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 1679 213
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1599 448
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 1497 388
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 904 157
C0409974 Lupus Erythematosus disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 557 44
C0024138 Lupus Erythematosus, Discoid disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 547 46
C0024131 Lupus Vulgaris disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 525 44
C0022104 Irritable Bowel Syndrome disease Digestive System Diseases Disease or Syndrome syndrome 421 51
C3495559 Juvenile arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 287 52
C0039483 Giant Cell Arteritis disease Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 258 78
C0333307 Superficial ulcer disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10
C0042164 Uveitis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the eye 208 43
C0701807 Acute anterior uveitis disease Eye Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of the eye 90 30
C0271737 Addison's disease due to autoimmunity disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 44 18
C2103602 Autoimmune Primary Adrenal Insufficiency disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 41 18
C0042166 Uveitis, Intermediate disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the eye 10 10