CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0000833 Abscess phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 96 1
C0000880 Acanthamoeba Keratitis disease Infections; Eye Diseases Disease or Syndrome 22 0
C0000889 Acanthosis Nigricans disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 64 11
C0001144 Acne Vulgaris disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 94 37
C0001175 Acquired Immunodeficiency Syndrome group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 243 42
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
C0001342 Acute periodontitis disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 130 49
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
C0001576 Adnexal Diseases group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 3 0
C0001623 Adrenal gland hypofunction phenotype Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 90 10
C0001723 Affective Disorders, Psychotic group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 17 10
C0001815 Primary Myelofibrosis disease Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 282 29
C0001883 Airway Obstruction group Respiratory Tract Diseases Disease or Syndrome 110 5
C0001956 Alcohol Use Disorder disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 54
C0001969 Alcoholic Intoxication disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 52 4
C0001973 Alcoholic Intoxication, Chronic disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 577 441
C0002390 Extrinsic allergic alveolitis group Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 65 2
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
C0002438 Amebiasis disease Infections Disease or Syndrome disease by infectious agent 37 2
C0002448 Ameloblastoma disease Neoplasms Neoplastic Process disease of cellular proliferation 174 4
C0002726 Amyloidosis disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 694 93
C0002736 Amyotrophic Lateral Sclerosis disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 1114 485
C0002793 Anaplasia disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7