CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0151281 Genital ulcers disease Disease or Syndrome Abnormality of the genitourinary system 15 6
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2044 281
C0003850 Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2006 267
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1708 1577
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1576 1178
C0948089 Acute Coronary Syndrome disease Cardiovascular Diseases Disease or Syndrome 440 139
C0339143 Thyroid associated opthalmopathies disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 211 49
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
C0742343 Acute Chest Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 405 135
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
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
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
C0019196 Hepatitis C disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 1768 347
C0524909 Hepatitis B, Chronic disease Digestive System Diseases; Infections Disease or Syndrome 415 84
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
C0027873 Neuromyelitis Optica disease Eye Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 171 45
C0042170 Uveomeningoencephalitic Syndrome disease Eye Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 102 27
C0036202 Sarcoidosis disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 413 787
C0004364 Autoimmune Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 1758 428
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1800 1022
C0038013 Ankylosing spondylitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 710 609
C0409959 Osteoarthritis, Knee disease Musculoskeletal Diseases Disease or Syndrome Abnormality of limbs; Abnormality of the skeletal system 368 150
C0302592 Cervix carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1881 283
C4048328 cervical cancer disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 1817 268
C0007847 Malignant tumor of cervix disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1718 245