CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1269955 Tumor Cell Invasion phenotype Neoplastic Process 6626 169
C4722085 Malignant neoplasm of colon and/or rectum disease Neoplastic Process 3669 502
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1825 553
C2985280 Blood Protein Measurement phenotype Laboratory Procedure 1156 2575
C0349588 Short stature phenotype Finding Growth abnormality 1127 292
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C1608408 Malignant transformation phenotype Neoplastic Process 1027 20
C2919142 Short Stature, CTCAE phenotype Finding 1010 0
C3854222 Human immunodeficiency virus (HIV) II infection category B1 disease Disease or Syndrome 985 56
C0751606 Adult Acute Lymphocytic Leukemia disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 860 154
C4529962 Fatty Liver Disease disease Disease or Syndrome 741 81
C0521158 Recurrent tumor phenotype Neoplastic Process 735 33
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 717 1599
C0856169 Endothelial dysfunction phenotype Disease or Syndrome 716 25
C2363741 HIV-1 infection disease Disease or Syndrome 695 94
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 681 1322
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 653 1206
C4048329 Immunosuppression disease Disease or Syndrome 632 9
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 610 1144
C0374997 Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site disease Disease or Syndrome 593 24
C0278488 Carcinoma breast stage IV disease Neoplastic Process 573 14
C2062441 Influenza A disease Disease or Syndrome 563 19
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 545 1440
C2938924 Oestrogen receptor positive breast cancer disease Neoplastic Process 510 58
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037