CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0007137 Squamous cell carcinoma disease Neoplasms Neoplastic Process disease of cellular proliferation Abnormality of the integument; Neoplasm 124 66
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 101 952
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 65 627
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 36 342
C0948089 Acute Coronary Syndrome disease Cardiovascular Diseases Disease or Syndrome 33 43
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 24 469
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 13 1206
C0020479 Hyperlipoproteinemia Type III disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 2 10
C2985280 Blood Protein Measurement phenotype Laboratory Procedure 0 2575
C0871470 Systolic Pressure phenotype Clinical Attribute 0 1931
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 0 1599
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 0 1440
C0202236 Triglycerides measurement phenotype Laboratory Procedure 0 1418
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 0 1243
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 0 1142
C0427460 Red cell distribution width determination phenotype Laboratory Procedure 0 988
C1304746 RDW - Red blood cell distribution width result phenotype Laboratory or Test Result 0 988
C0428474 Serum LDL cholesterol measurement phenotype Laboratory Procedure 0 555
C0206161 Reticulocyte count (procedure) phenotype Laboratory Procedure 0 474
C1096202 Lipoprotein (a) measurement phenotype Laboratory Procedure 0 103
C0023980 Longevity phenotype Temporal Concept 0 74
C0523744 Lipids measurement group Laboratory Procedure 0 53
C3549252 response to statin phenotype Organism Function 0 8