CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 321 675
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 71 199
C0025202 melanoma disease Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 25 35
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 67 119
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 179 399
C0029410 Osteoarthritis of hip disease Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 49 81
C0024117 Chronic Obstructive Airway Disease disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 203 529
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 75 138
C0001973 Alcoholic Intoxication, Chronic disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 45 85
C0151779 Cutaneous Melanoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 32 42
C2607914 Allergic rhinitis (disorder) disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of head or neck 46 72
C0023530 Leukopenia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of blood and blood-forming tissues 3 6
C0021390 Inflammatory Bowel Diseases group Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 178 354
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 225 326
C0004238 Atrial Fibrillation disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 159 362
C0018801 Heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 38 82
C0730345 Microalbuminuria phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 22 31
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 353 844
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 63 104
C0409959 Osteoarthritis, Knee disease Musculoskeletal Diseases Disease or Syndrome Abnormality of limbs; Abnormality of the skeletal system 38 59
C1305855 Body mass index phenotype Clinical Attribute 1014 2689
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 633 1159
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 623 1003
C0427460 Red cell distribution width determination phenotype Laboratory Procedure 593 988