CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0001311 Acute bronchiolitis disease Infections; Respiratory Tract Diseases Disease or Syndrome 11 3
C0001339 Acute pancreatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 435 51
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2235 168
C0001430 Adenoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1183 103
C0001486 Adenovirus Infections group Infections Disease or Syndrome 145 0
C0001815 Primary Myelofibrosis disease Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 282 29
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 3397 1843
C0002793 Anaplasia disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 847 94
C0002873 Anemia of chronic disease phenotype Hemic and Lymphatic Diseases Disease or Syndrome 100 1
C0002875 Cooley's anemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease 144 19
C0002965 Angina, Unstable disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 129 21
C0003486 Aortic Aneurysm disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 278 19
C0003723 Arbovirus Infections group Infections Disease or Syndrome disease by infectious agent 8 0
C0003850 Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2006 267
C0003864 Arthritis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 1072 69
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
C0004093 Asthenia phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 16 3
C0004096 Asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 2096 1536
C0004135 Ataxia Telangiectasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 384 698
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2044 281
C0004364 Autoimmune Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 1758 428
C0004565 Melanoma, B16 disease Neoplasms Neoplastic Process; Experimental Model of Disease 157 1
C0004610 Bacteremia disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome Abnormality of metabolism/homeostasis 233 7
C0004623 Bacterial Infections group Infections Disease or Syndrome disease by infectious agent 616 17