Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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 2723 2387
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 1883 1172
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 1675 954
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 1458 827
C0019163 Hepatitis B disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 1449 519
C0036421 Systemic Scleroderma disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 979 287
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
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 552 46
C0024131 Lupus Vulgaris disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 526 44
C0024143 Lupus Nephritis disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 503 64
C1527336 Sjogren's Syndrome disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 481 47
C0008312 Primary biliary cirrhosis disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 478 667