CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
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
C0003164 Anthracosilicosis disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome disease of anatomical entity 5 4
C0003850 Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2006 267
C0003857 Congenital arteriovenous malformation disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 163 23
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
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2044 281
C0004238 Atrial Fibrillation disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 939 584
C0004364 Autoimmune Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 1758 428
C0004610 Bacteremia disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome Abnormality of metabolism/homeostasis 233 7
C0004936 Mental disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 789 149
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6941 3417
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 8621 1641
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1756 711
C0007785 Cerebral Infarction disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 687 123
C0007789 Cerebral Palsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 241 69
C0007847 Malignant tumor of cervix disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1718 245
C0009241 Cognition Disorders group Mental Disorders Mental or Behavioral Dysfunction 607 47
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5473 1962
C0010054 Coronary Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1282 440
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1576 1178
C0011269 Dementia, Vascular disease Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome disease of mental health 212 32
C0011570 Mental Depression disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health 1478 271
C0011581 Depressive disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1719 297
C0011847 Diabetes disease Endocrine System Diseases Disease or Syndrome disease of metabolism 2359 710