CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C3714514 Infection group Infections Pathologic Function 489
C0003130 Anoxia phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 258
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 175
C0030567 Parkinson Disease disease Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 137
C0019196 Hepatitis C disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 126
C0013080 Down Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease 115
C0011881 Diabetic Nephropathy disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 110
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 91
C0022116 Ischemia phenotype Pathological Conditions, Signs and Symptoms Pathologic Function disease of anatomical entity 51
C0242383 Age related macular degeneration disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 47
C0333641 Atrophic phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 46
C0015695 Fatty Liver disease Digestive System Diseases Disease or Syndrome genetic disease; disease of metabolism 37
C0018799 Heart Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 37
C0020542 Pulmonary Hypertension phenotype Respiratory Tract Diseases Pathologic Function disease of anatomical entity 37
C0014556 Epilepsy, Temporal Lobe disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 36
C0151744 Myocardial Ischemia disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 36
C0020557 Hypertriglyceridemia phenotype Nutritional and Metabolic Diseases Disease or Syndrome 31
C0007785 Cerebral Infarction disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 30
C0024530 Malaria disease Infections Disease or Syndrome disease by infectious agent 30
C0085413 Polycystic Kidney, Autosomal Dominant disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity 27
C0038644 Sudden infant death syndrome disease Pathological Conditions, Signs and Symptoms Disease or Syndrome syndrome 24
C0085084 Motor Neuron Disease disease Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 23
C0019080 Hemorrhage phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 21
C0018995 Hemochromatosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 20
C0598608 Hyperhomocysteinemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 16