Source: BEFREE

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
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
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
C2938924 Oestrogen receptor positive breast cancer disease Neoplastic Process 504 46
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
C4525297 Stage 0 Gallbladder Cancer AJCC v8 disease Neoplastic Process 367 56
C4733092 estrogen receptor-negative breast cancer disease Neoplastic Process 356 40
C1337013 Differentiated Thyroid Gland Carcinoma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 242 72
C4722172 Primary differentiated carcinoma of thyroid gland disease Neoplastic Process 167 41
C1334177 Infiltrating Cervical Carcinoma disease Neoplastic Process 76 13
C1333762 Gastric Cardia Adenocarcinoma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 65 11
C1336735 Treatment related acute myeloid leukaemia disease Neoplastic Process 65 4
C0741682 Premenopausal breast cancer disease Neoplastic Process 51 18
C1333763 Gastric Cardia Carcinoma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 23 12
C1827820 Fast acetylator due to N-acetyltransferase enzyme variant disease Disease or Syndrome 17 9
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1973 871
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1504 1022
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1432 769
C0010054 Coronary Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1262 440
C0242510 Drug usage phenotype Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 170 21
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 756 47