CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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 64
C2316810 Chronic kidney disease stage 5 disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system 58
C2750440 FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 disease Finding genetic disease; disease of metabolism 57
C3150651 FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 phenotype Finding genetic disease; disease of metabolism 57
C2750441 LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1 phenotype Finding genetic disease; disease of metabolism 57
C0009319 Colitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 51
C0151744 Myocardial Ischemia disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 48
C0034069 Pulmonary Fibrosis disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 47
C0011884 Diabetic Retinopathy disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 42
C0030305 Pancreatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 41
C0030193 Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 40
C1332309 Anti-Basement Membrane Glomerulonephritis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 38
C0024115 Lung diseases group Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 38
C0267941 Pancreatitis, Acute Necrotizing disease Digestive System Diseases Disease or Syndrome 32
C0042164 Uveitis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the eye 30
C0242184 Hypoxia phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 26
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 24
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 23
C0598608 Hyperhomocysteinemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 22
C0031099 Periodontitis disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of head or neck 21
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 18
C0033141 Cardiomyopathies, Primary group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 18
C0020459 Hyperinsulinism disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism; disease of anatomical entity Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 18
C0036529 Myocardial Diseases, Secondary group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 18
C0017662 Glomerulonephritis, Membranoproliferative 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 17