CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0003868 Arthritis, Gouty disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 55 92
C0018099 Gout disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 55 92
C0948008 Ischemic stroke disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 51 89
C0271084 Exudative age-related macular degeneration disease Eye Diseases Disease or Syndrome disease of anatomical entity 46 69
C2237660 exudative macular degeneration disease Eye Diseases Disease or Syndrome 46 69
C1611184 Calcification of coronary artery phenotype Nutritional and Metabolic Diseases; Cardiovascular Diseases Pathologic Function Abnormality of the skeletal system; Abnormality of the cardiovascular system 45 84
C0337438 Glucose measurement phenotype Laboratory Procedure 42 69
C0495706 elevated blood glucose level phenotype Finding 42 69
C1536085 Geographic Atrophy disease Eye Diseases Disease or Syndrome Abnormality of the eye 39 57
C0018801 Heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 38 82
C0029408 Degenerative polyarthritis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 35 48
C0523677 Glycine measurement phenotype Laboratory Procedure 32 68
C0202177 Phospholipid measurement phenotype Laboratory Procedure 30 60
C0005823 Blood Pressure phenotype Organism Function 30 36
C0523744 Lipids measurement group Laboratory Procedure 27 52
C0004763 Barrett Esophagus disease Digestive System Diseases; Neoplasms Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Neoplasm 16 31
C0279628 Adenocarcinoma Of Esophagus disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 15 33
C0012242 Digestive System Disorders group Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 4 8
C0017178 Gastrointestinal Diseases group Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 4 8
C0021831 Intestinal Diseases group Digestive System Diseases Disease or Syndrome disease of anatomical entity 4 8