CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 116 1
C0001925 Albuminuria phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding disease of anatomical entity Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 24 59
C0001973 Alcoholic Intoxication, Chronic disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 268 231
C0002152 Alloxan Diabetes disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 108 0
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 101 952
C0003811 Cardiac Arrhythmia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 25 24
C0004238 Atrial Fibrillation disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 160 374
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 261 181
C0005138 Berylliosis disease Respiratory Tract Diseases; Occupational Diseases Injury or Poisoning disease of anatomical entity 11 0
C0005586 Bipolar Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 477 552
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 36 342
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 47 202
C0007786 Brain Ischemia disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 60 0
C0010054 Coronary Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 65 0
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 24 469
C0010200 Coughing phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 4 7
C0011071 Sudden death phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 5 3
C0011265 Presenile dementia disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0
C0011581 Depressive disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 289 7
C0011853 Diabetes Mellitus, Experimental disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 108 0
C0011881 Diabetic Nephropathy disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 44 33
C0013182 Drug Allergy group Immune System Diseases; Chemically-Induced Disorders Pathologic Function 35 0
C0017205 Gaucher Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 4 41
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 34 31
C0017667 Nodular glomerulosclerosis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 41 0