Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0011849 Diabetes Mellitus group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 32 118
C0024530 Malaria disease Infections Disease or Syndrome disease by infectious agent 20 60
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 17 579
C0005283 beta Thalassemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease 12 87
C0002895 Anemia, Sickle Cell disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 10 75
C1841621 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 phenotype Finding 4 20
C0011847 Diabetes disease Endocrine System Diseases Disease or Syndrome disease of metabolism 3 104
C0700299 Heinz Body Anemias disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of blood and blood-forming tissues 3 19
C1970028 MALARIA, SUSCEPTIBILITY TO (finding) disease Finding 1 23
C1858990 Beta Thalassemia, Dominant Inclusion Body Type disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease 1 14
C4528257 Corpuscular Hemoglobin Concentration Mean phenotype Laboratory or Test Result 0 4389
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 0 1599
C0202239 Uric acid measurement (procedure) phenotype Laboratory Procedure 0 1463
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 0 1322
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 0 1144
C0017654 Glomerular Filtration Rate phenotype Diagnostic Procedure 0 1033
C1304746 RDW - Red blood cell distribution width result phenotype Laboratory or Test Result 0 988
C0427460 Red cell distribution width determination phenotype Laboratory Procedure 0 988
C0524587 Mean Corpuscular Volume (result) phenotype Laboratory or Test Result 0 549
C0032181 Platelet Count measurement phenotype Laboratory Procedure 0 457
C0200641 Blood basophil count (lab test) phenotype Laboratory Procedure 0 452
C0200665 Platelet mean volume determination (procedure) phenotype Laboratory Procedure 0 371
C0200637 Monocyte count procedure phenotype Laboratory Procedure 0 296
C0750880 Monocyte count result phenotype Laboratory or Test Result 0 296
C0200633 Neutrophil count (procedure) phenotype Laboratory Procedure 0 234