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
C1608408 Malignant transformation phenotype Neoplastic Process 1027 20
C0521158 Recurrent tumor phenotype Neoplastic Process 735 33
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
C2938924 Oestrogen receptor positive breast cancer disease Neoplastic Process 504 46
C1739135 Progression of prostate cancer disease Neoplastic Process 398 7
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
C0236734 Caffeine related disorders group Mental or Behavioral Dysfunction 360 56
C4733092 estrogen receptor-negative breast cancer disease Neoplastic Process 356 40
C1397307 Cardiac fibrosis disease Disease or Syndrome 290 3
C0940937 precancerous lesions phenotype Neoplastic Process 270 19
C3642347 Basal-Like Breast Carcinoma disease Neoplastic Process 245 9
C3642345 Luminal A Breast Carcinoma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 153 11
C1378511 Undifferentiated leukemia disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 120 2
C0280141 Acute Undifferentiated Leukemia disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 119 1
C3839280 High grade serous carcinoma disease Neoplastic Process 118 1
C0280321 Squamous cell carcinoma of the hypopharynx disease Neoplastic Process 100 3
C1333977 Hepatitis B Virus-Related Hepatocellular Carcinoma disease Neoplastic Process 76 8
C3888391 Nonnuclear polymorphic congenital cataract disease Congenital Abnormality genetic disease; disease of anatomical entity 71 0