Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0023467 Leukemia, Myelocytic, Acute disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 3111 6892
C0005890 Body Height phenotype Organism Attribute 1903 3972
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6941 3417
C0036341 Schizophrenia disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 2872 2897
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
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 3134 2672
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 2723 2387
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5473 1962
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 3397 1843
C0027651 Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 10161 1644
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 8621 1641
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1708 1577
C0004096 Asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 2096 1536
C1269683 Major Depressive Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 1236 1451
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 545 1440
C0202236 Triglycerides measurement phenotype Laboratory Procedure 563 1418
C1306459 Primary malignant neoplasm group Neoplasms Neoplastic Process disease of cellular proliferation 8221 1374
C1333990 Hereditary Nonpolyposis Colorectal Cancer disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process genetic disease 174 1331
C0684249 Carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 4081 1204
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1576 1178
C0410702 Adolescent idiopathic scoliosis disease Musculoskeletal Diseases Anatomical Abnormality 656 1178
C0024141 Lupus Erythematosus, Systemic disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 1883 1172
C0016529 Forced expiratory volume function phenotype Organ or Tissue Function 272 1169
C0600139 Prostate carcinoma disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 4388 1168