CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0000735 Abdominal Neoplasms group Neoplasms Neoplastic Process 13 0
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 302 18
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73
C0001175 Acquired Immunodeficiency Syndrome group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 243 42
C0001206 Acromegaly disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the endocrine system 138 25
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
C0001420 Papillary adenocarcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 11 3
C0001422 Adenofibroma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 8 0
C0001429 Adenolymphoma disease Neoplasms Neoplastic Process 21 0
C0001430 Adenoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1183 103
C0001442 Adenosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 9 1
C0001486 Adenovirus Infections group Infections Disease or Syndrome 145 0
C0001618 Tumors of Adrenal Cortex group Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 74 5
C0001624 Adrenal Gland Neoplasms group Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 94 0
C0001627 Congenital adrenal hyperplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of the endocrine system 87 36
C0001815 Primary Myelofibrosis disease Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 282 29
C0001849 AIDS Dementia Complex disease Infections; Immune System Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 45 4
C0001857 AIDS related complex disease Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 100 43
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
C0002152 Alloxan Diabetes disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 112 0
C0002170 Alopecia disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of head or neck 491 375
C0002312 alpha-Thalassemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease 86 37
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