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
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C4529962 Fatty Liver Disease disease Disease or Syndrome 741 81
C0856169 Endothelial dysfunction phenotype Disease or Syndrome 716 25
C4048329 Immunosuppression disease Disease or Syndrome 632 9
C0205682 Waist-Hip Ratio phenotype Organism Attribute 565 1138
C0202236 Triglycerides measurement phenotype Laboratory Procedure 563 1418
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 545 1440
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 486 1243
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 483 1142
C0375023 Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site disease Disease or Syndrome 467 14
C0523465 Serum albumin measurement phenotype Laboratory Procedure 433 3282
C0428472 Serum HDL cholesterol measurement phenotype Laboratory Procedure 283 679
C4049938 Physical Activity Measurement phenotype Laboratory Procedure 160 355
C1963094 Dry Skin, CTCAE phenotype Finding 137 0
C0476403 Electromyogram abnormal phenotype Finding Abnormality of the musculature 130 12
C1963943 Atherothrombosis disease Acquired Abnormality 115 15
C0375206 Hemiplegia/hemiparesis disease Disease or Syndrome Abnormality of the nervous system 112 2
C1848736 Distal amyotrophy disease Disease or Syndrome Abnormality of the musculature 106 7
C0948379 Impaired insulin secretion disease Disease or Syndrome 88 14
C3279947 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 disease Disease or Syndrome disease of anatomical entity 77 1
C4021780 Abnormality of the liver phenotype Finding Abnormality of the digestive system 75 8
C1260959 Drusen disease Disease or Syndrome Abnormality of the eye 57 18
C1504336 Polypoidal choroidal vasculopathy disease Disease or Syndrome Abnormality of the eye 56 67