Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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 1382 1147
C4721555 Autoimmune hepatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity 190 22
C0008313 Cholangitis, Sclerosing disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 188 276
C0014848 Esophageal Achalasia disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 49 5
C0860207 Drug-Induced Liver Disease phenotype Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 537 29
C0241910 Autoimmune Chronic Hepatitis disease Digestive System Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 213 23
C0019196 Hepatitis C disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 1768 347
C0007570 Celiac Disease disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 527 263
C0011847 Diabetes disease Endocrine System Diseases Disease or Syndrome disease of metabolism 2359 710
C0020676 Hypothyroidism disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 613 283
C0677607 Hashimoto Disease disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system; Abnormality of the immune system 335 131
C0040128 Thyroid Diseases group Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 230 26
C0342342 Idiopathic Hypoparathyroidism disease Endocrine System Diseases Disease or Syndrome 12 5
C0701807 Acute anterior uveitis disease Eye Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of the eye 90 30
C0042165 Anterior uveitis disease Eye Diseases Disease or Syndrome disease of anatomical entity 53 20
C0018213 Graves Disease disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 585 352
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
C0014175 Endometriosis disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 1188 274
C4050407 Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 71 15
C0002893 Refractory anemias disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 340 11
C0004364 Autoimmune Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 1758 428
C0021053 Immune System Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity 451 116
C2717865 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis disease Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 86 3
C0920350 Autoimmune thyroiditis disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 161 76
C0001403 Addison Disease disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 111 13