Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4722085 Malignant neoplasm of colon and/or rectum disease Neoplastic Process 3669 502
C0005890 Body Height phenotype Organism Attribute 1903 3972
C1305855 Body mass index phenotype Clinical Attribute 1014 2689
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931
C4529962 Fatty Liver Disease disease Disease or Syndrome 741 81
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 717 1599
C0202236 Triglycerides measurement phenotype Laboratory Procedure 563 1418
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 545 1440
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 486 1243
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 483 1142
C0523465 Serum albumin measurement phenotype Laboratory Procedure 433 3282
C0017654 Glomerular Filtration Rate phenotype Diagnostic Procedure 399 1033
C0428474 Serum LDL cholesterol measurement phenotype Laboratory Procedure 269 555
C0202239 Uric acid measurement (procedure) phenotype Laboratory Procedure 264 1463
C0489786 Height phenotype Organism Attribute 249 517
C0018935 Hematocrit procedure phenotype Laboratory Procedure 138 216
C0201657 C-reactive protein measurement phenotype Laboratory Procedure 135 624
C0428568 Fasting blood glucose measurement phenotype Laboratory Procedure 96 212
C0337438 Glucose measurement phenotype Laboratory Procedure 89 111
C0495706 elevated blood glucose level phenotype Finding 89 111
C0578022 Finding of body mass index phenotype Finding 88 252
C0005893 Body mass index procedure phenotype Diagnostic Procedure 88 252
C1261430 Fasting blood sugar result phenotype Laboratory or Test Result 65 113
C0919677 Protein C measurement phenotype Laboratory Procedure 62 522