CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0684249 Carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 4000 995
C1531624 Cardioembolic stroke disease Disease or Syndrome 37 17
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1551 382
C0577631 Carotid Atherosclerosis disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 212 72
C0700095 Central neuroblastoma disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2419 231
C0085220 Cerebral Amyloid Angiopathy disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 60 17
C0007785 Cerebral Infarction disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 676 123
C0038454 Cerebrovascular accident group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 1515 412
C0007820 Cerebrovascular Disorders group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 231 56
C0280474 Childhood Glioblastoma disease Neoplasms Neoplastic Process 2527 98
C4086165 Childhood Neuroblastoma disease Neoplasms Neoplastic Process 2420 231
C1332986 Childhood Osteosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2208 151
C0008370 Cholestasis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 276 11
C0008384 Cholesterol Ester Storage Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 3 2
C1561643 Chronic Kidney Diseases group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 1006 155
C1292778 Chronic myeloproliferative disorder disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 351 44
C0024117 Chronic Obstructive Airway Disease disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 1213 301
C0009241 Cognition Disorders group Mental Disorders Mental or Behavioral Dysfunction 584 47
C0275524 Coinfection phenotype Infections Disease or Syndrome 252 11
C0699790 Colon Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2831 275
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5011 1186
C2747816 Complicated malaria disease Infections Disease or Syndrome 166 38
C0220668 Congenital contractural arachnodactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity 557 20
C1268935 Congenital Thrombotic Thrombocytopenic Purpura disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 33 12
C0018802 Congestive heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1575 156