Source: ALL

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
C2985280 Blood Protein Measurement phenotype Laboratory Procedure 1156 2575
C4529962 Fatty Liver Disease disease Disease or Syndrome 741 81
C0521158 Recurrent tumor phenotype Neoplastic Process 735 33
C0856169 Endothelial dysfunction phenotype Disease or Syndrome 716 25
C0202236 Triglycerides measurement phenotype Laboratory Procedure 563 1418
C2938924 Oestrogen receptor positive breast cancer disease Neoplastic Process 510 58
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 486 1243
C4553743 Spasticity, CTCAE phenotype Finding 477 0
C0523465 Serum albumin measurement phenotype Laboratory Procedure 433 3282
C0236734 Caffeine related disorders group Mental or Behavioral Dysfunction 360 56
C4733092 estrogen receptor-negative breast cancer disease Neoplastic Process 356 40
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 306 12
C3160718 PARKINSON DISEASE, LATE-ONSET disease Disease or Syndrome disease of anatomical entity 247 76
C1337013 Differentiated Thyroid Gland Carcinoma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 245 80
C0877008 Enzyme inhibition disorder phenotype Disease or Syndrome 171 1
C3642345 Luminal A Breast Carcinoma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 153 11
C0220810 Congenital defects group Congenital Abnormality 126 6
C4552811 Generalized Muscle Weakness, CTCAE phenotype Finding 117 0
C0948379 Impaired insulin secretion disease Disease or Syndrome 88 14
C1963060 Agitation, CTCAE 3.0 phenotype Finding 87 0
C4552855 Agitation, CTCAE 5.0 phenotype Finding 87 0
C0741923 cardiac event phenotype Disease or Syndrome 82 18
C1561826 Overweight and obesity disease Disease or Syndrome 81 29