Source: CURATED

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 173 6669
C0027672 Neoplastic Syndromes, Hereditary group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 0 6385
C4528257 Corpuscular Hemoglobin Concentration Mean phenotype Laboratory or Test Result 0 4389
C0005890 Body Height phenotype Organism Attribute 0 3972
C0523465 Serum albumin measurement phenotype Laboratory Procedure 0 3282
C1305855 Body mass index phenotype Clinical Attribute 0 2689
C2675520 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 disease Finding 1 2633
C2985280 Blood Protein Measurement phenotype Laboratory Procedure 0 2575
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 9 2348
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 1 2345
C2676676 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 disease Finding 1 2277
C0596887 mathematical ability phenotype Mental Process 0 2127
C0677776 Hereditary Breast and Ovarian Cancer Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases Neoplastic Process genetic disease; syndrome 14 2106
C0021704 Intelligence phenotype Behavior and Behavior Mechanisms Mental Process 0 2093
C0871470 Systolic Pressure phenotype Clinical Attribute 0 1931
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
C0036341 Schizophrenia disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 883 1629
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 0 1599
C0202239 Uric acid measurement (procedure) phenotype Laboratory Procedure 0 1463
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 0 1440
C0202236 Triglycerides measurement phenotype Laboratory Procedure 0 1418
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1074 1390
C0020445 Hypercholesterolemia, Familial disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 18 1368
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 0 1322
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 29 1268