CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4552766 Miscarriage disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 426 56
C4529962 Fatty Liver Disease disease Disease or Syndrome 741 81
C3854222 Human immunodeficiency virus (HIV) II infection category B1 disease Disease or Syndrome 985 56
C3159311 BORNHOLM EYE DISEASE disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 1
C2711227 Steatohepatitis disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 1143 75
C2362324 Pediatric Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 191 67
C2267227 Bulimia Nervosa disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 71 24
C1960272 Latent autoimmune diabetes mellitus in adult disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 49 12
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1708 1577
C1861172 Venous Thromboembolism phenotype Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 378 408
C1739108 Latent Autoimmune Diabetes in Adults disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 39 12
C1561826 Overweight and obesity disease Disease or Syndrome 81 29
C1519383 Smoking Behaviors phenotype Behavior and Behavior Mechanisms Individual Behavior 249 742
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 486 1243
C1314691 Age at menarche phenotype Behavior and Behavior Mechanisms Finding 267 591
C1306459 Primary malignant neoplasm group Neoplasms Neoplastic Process disease of cellular proliferation 8221 1374
C1305855 Body mass index phenotype Clinical Attribute 1014 2689
C1269683 Major Depressive Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 1236 1451
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931
C0852733 Completed Suicide phenotype Mental or Behavioral Dysfunction 33 33
C0852036 Pregnancy associated hypertension phenotype Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 186 43
C0812413 Malignant Pleural Mesothelioma disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 421 15
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 6776 2793
C0600139 Prostate carcinoma disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 4388 1168
C0596263 Carcinogenesis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355