CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2080 167
C0001622 Adrenal Gland Hyperfunction phenotype Endocrine System Diseases Disease or Syndrome disease of anatomical entity 50 0
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 3131 968
C0002895 Anemia, Sickle Cell disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 414 68
C0003850 Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1995 266
C0003862 Arthralgia phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom Constitutional symptom 104 16
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 2395 676
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 1731 714
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1998 271
C0004364 Autoimmune Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 1679 213
C0004936 Mental disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 763 101
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6481 2154
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 8577 1441
C0007102 Malignant tumor of colon disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 2779 289
C0007134 Renal Cell Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 1958 182
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1551 382
C0007682 CNS disorder group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 313 11
C0007820 Cerebrovascular Disorders group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 231 56
C0008350 Cholelithiasis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 181 61
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5011 1186
C0010054 Coronary Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1262 440
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1432 769
C0011311 Dengue Fever disease Infections Disease or Syndrome disease by infectious agent 349 39
C0011847 Diabetes disease Endocrine System Diseases Disease or Syndrome disease of metabolism 2314 611
C0011849 Diabetes Mellitus group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 2650 714