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
C0751606 Adult Acute Lymphocytic Leukemia disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 860 154
C0521158 Recurrent tumor phenotype Neoplastic Process 735 33
C0278488 Carcinoma breast stage IV disease Neoplastic Process 573 14
C2938924 Oestrogen receptor positive breast cancer disease Neoplastic Process 510 58
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
C1282496 Metastasis from malignant tumor of prostate disease Neoplastic Process 342 18
C1969372 Tubulointerstitial fibrosis phenotype Disease or Syndrome Abnormality of the genitourinary system 328 0
C1397307 Cardiac fibrosis disease Disease or Syndrome 297 3
C0747845 early pregnancy phenotype Disease or Syndrome 273 8
C0940937 precancerous lesions phenotype Neoplastic Process 270 19
C0334037 Intestinal metaplasia phenotype Disease or Syndrome 266 24
C3642347 Basal-Like Breast Carcinoma disease Neoplastic Process 245 9
C3888194 MIXED LINEAGE LEUKEMIA disease Neoplastic Process 240 2
C2347748 Adult Erythroleukemia disease Neoplastic Process 236 4
C3495917 Advanced breast cancer disease Neoplastic Process 151 3
C1378511 Undifferentiated leukemia disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 120 2
C2986658 Diffuse Intrinsic Pontine Glioma disease Neoplastic Process 87 9
C0853662 Oestrogen deficiency disease Disease or Syndrome 85 1