Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0428302 Calcium level result phenotype Laboratory or Test Result 14 51
C0017741 Glucose tolerance test phenotype Laboratory Procedure 17 28
C0201925 Calcium measurement phenotype Laboratory Procedure 23 71
C0202177 Phospholipid measurement phenotype Laboratory Procedure 58 306
C0919677 Protein C measurement phenotype Laboratory Procedure 62 522
C1168438 Protein C antigen measurement phenotype Laboratory Procedure 62 522
C1261430 Fasting blood sugar result phenotype Laboratory or Test Result 65 113
C0578022 Finding of body mass index phenotype Finding 88 252
C0005893 Body mass index procedure phenotype Diagnostic Procedure 88 252
C0337438 Glucose measurement phenotype Laboratory Procedure 89 111
C0495706 elevated blood glucose level phenotype Finding 89 111
C0428568 Fasting blood glucose measurement phenotype Laboratory Procedure 96 212
C0201657 C-reactive protein measurement phenotype Laboratory Procedure 135 624
C0018935 Hematocrit procedure phenotype Laboratory Procedure 138 216
C0080178 Spina Bifida disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder Abnormality of the nervous system 179 61
C0018099 Gout disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 205 2354
C0003868 Arthritis, Gouty disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 206 2356
C0001948 Alcohol consumption phenotype Behavior and Behavior Mechanisms Individual Behavior 210 535
C0489786 Height phenotype Organism Attribute 249 517
C0202239 Uric acid measurement (procedure) phenotype Laboratory Procedure 264 1463
C0428474 Serum LDL cholesterol measurement phenotype Laboratory Procedure 269 555
C0027794 Neural Tube Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 304 122
C0020557 Hypertriglyceridemia phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169
C0017654 Glomerular Filtration Rate phenotype Diagnostic Procedure 399 1033
C0523465 Serum albumin measurement phenotype Laboratory Procedure 433 3282