Source: BEFREE

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
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C1608408 Malignant transformation phenotype Neoplastic Process 1027 20
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 740 41
C0521158 Recurrent tumor phenotype Neoplastic Process 735 33
C0856169 Endothelial dysfunction phenotype Disease or Syndrome 716 25
C2363741 HIV-1 infection disease Disease or Syndrome 678 62
C4048329 Immunosuppression disease Disease or Syndrome 632 9
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 608 51
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
C2938924 Oestrogen receptor positive breast cancer disease Neoplastic Process 504 46
C0375023 Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site disease Disease or Syndrome 467 14
C1739135 Progression of prostate cancer disease Neoplastic Process 398 7
C0677932 Progressive Neoplastic Disease phenotype Neoplastic Process 384 40
C3539781 Progressive cGVHD disease Disease or Syndrome 384 40
C4525297 Stage 0 Gallbladder Cancer AJCC v8 disease Neoplastic Process 367 56
C4525300 Stage IIA Gallbladder Cancer AJCC v8 disease Neoplastic Process 367 56
C4525301 Stage IIB Gallbladder Cancer AJCC v8 disease Neoplastic Process 367 56
C4525302 Stage III Gallbladder Cancer AJCC v8 disease Neoplastic Process 367 56
C4525305 Stage IV Gallbladder Cancer AJCC v8 disease Neoplastic Process 367 56