Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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 174 1789
C0008370 Cholestasis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 110 4
C0018801 Heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 110 82
C0018802 Congestive heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 110 9
C0023212 Left-Sided Heart Failure disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 110 4
C0235527 Heart Failure, Right-Sided disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 110 0
C1959583 Myocardial Failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 110 0
C0015695 Fatty Liver disease Digestive System Diseases Disease or Syndrome genetic disease; disease of metabolism 88 0
C2711227 Steatohepatitis disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 88 9
C0034069 Pulmonary Fibrosis disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 85 0
C4721507 Alveolitis, Fibrosing disease Respiratory Tract Diseases Disease or Syndrome 83 0
C0009324 Ulcerative Colitis disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 63 475
C0024117 Chronic Obstructive Airway Disease disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 33 575
C1527303 Chronic Airflow Obstruction disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 33 0
C0017658 Glomerulonephritis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system; Abnormality of the immune system 31 2
C1704377 Bright Disease disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 0
C0004943 Behcet Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 24 52
C0019202 Hepatolenticular Degeneration disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity 24 318
C1527352 Hepatic Form of Wilson Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 24 0
C0013080 Down Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease 19 0
C0432416 Down Syndrome, Partial Trisomy 21 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 0
C0432417 Trisomy 21, Meiotic Nondisjunction disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 0
C0751081 Trisomy 21, Mitotic Nondisjunction disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 0
C0029172 Oral Submucous Fibrosis disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 18 0
C0004763 Barrett Esophagus disease Digestive System Diseases; Neoplasms Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Neoplasm 16 31