CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2985280 Blood Protein Measurement phenotype Laboratory Procedure 1156 2575
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 685 1141
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 353 951
C0202236 Triglycerides measurement phenotype Laboratory Procedure 324 837
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 308 766
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 295 731
C1837315 COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 disease Finding 165 368
C2675481 COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 disease Finding 165 368
C2677123 COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 phenotype Finding 165 368
C3554460 COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 disease Finding 165 368
C0018935 Hematocrit procedure phenotype Laboratory Procedure 138 216
C0518015 Hemoglobin measurement phenotype Laboratory Procedure 129 209
C0018498 Hair Color phenotype Organism Attribute 126 294
C1821417 RESTING HEART RATE phenotype Finding 80 128
C0428568 Fasting blood glucose measurement phenotype Laboratory Procedure 57 114
C1281901 Fatty acid measurement group Laboratory Procedure 50 116
C0202177 Phospholipid measurement phenotype Laboratory Procedure 30 60
C0741260 Adult onset asthma disease Disease or Syndrome 29 62
C0700379 Total iron binding capacity function phenotype Clinical Attribute 20 35
C1283048 Iron binding capacity total measurement phenotype Laboratory Procedure 20 35
C0523829 Phosphatidylcholine measurement phenotype Laboratory Procedure 9 19
C2316832 Arachidonic acid measurement phenotype Laboratory Procedure 4 4
C0010346 Crohn Disease disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 239 616
C0009324 Ulcerative Colitis disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 211 464
C0008313 Cholangitis, Sclerosing disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 149 276