CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 284 681
C0428472 Serum HDL cholesterol measurement phenotype Laboratory Procedure 283 679
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 278 652
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 269 555
C0428474 Serum LDL cholesterol measurement phenotype Laboratory Procedure 269 555
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 125 534
C0014859 Esophageal Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 56 107
C2242817 Homocysteine measurement phenotype Laboratory Procedure 16 19
C0202252 VITAMIN B12 MEASUREMENT phenotype Laboratory Procedure 12 18
C0001925 Albuminuria phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding disease of anatomical entity Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 1 1