Source: ALL

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
C0003615 Appendicitis disease Digestive System Diseases; Infections Disease or Syndrome disease of anatomical entity 83 10
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
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6941 3417
C0006625 Cachexia phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Growth abnormality 273 11
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
C0007570 Celiac Disease disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 527 263
C0007789 Cerebral Palsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 241 69
C0008495 Chorioamnionitis phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity 132 2
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5473 1962
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1576 1178
C0011847 Diabetes disease Endocrine System Diseases Disease or Syndrome disease of metabolism 2359 710
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 2803 824
C0011854 Diabetes Mellitus, Insulin-Dependent disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 1675 954
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 3134 2672
C0011881 Diabetic Nephropathy disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238
C0014175 Endometriosis disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 1188 274
C0017661 IGA Glomerulonephritis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 456 130
C0017665 Membranous glomerulonephritis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system; Abnormality of the immune system 197 33
C0019163 Hepatitis B disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 1449 519
C0019196 Hepatitis C disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 1768 347
C0019693 HIV Infections group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 807 142
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2322 1085
C0022658 Kidney Diseases group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 1180 140