Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0015695 Fatty Liver disease Digestive System Diseases Disease or Syndrome genetic disease; disease of metabolism 875 35
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931
C4529962 Fatty Liver Disease disease Disease or Syndrome 741 81
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 717 1599
C0085207 Gestational Diabetes phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth; Abnormality of the endocrine system 649 224
C0202236 Triglycerides measurement phenotype Laboratory Procedure 563 1418
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 545 1440
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 486 1243
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 483 1142
C0242339 Dyslipidemias group Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 471 184
C3241937 Nonalcoholic Steatohepatitis disease Digestive System Diseases Disease or Syndrome 434 17
C0523465 Serum albumin measurement phenotype Laboratory Procedure 433 3282
C0017654 Glomerular Filtration Rate phenotype Diagnostic Procedure 399 1033
C0020557 Hypertriglyceridemia phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169
C0027794 Neural Tube Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 304 122
C0428474 Serum LDL cholesterol measurement phenotype Laboratory Procedure 269 555
C0202239 Uric acid measurement (procedure) phenotype Laboratory Procedure 264 1463
C0489786 Height phenotype Organism Attribute 249 517
C0001948 Alcohol consumption phenotype Behavior and Behavior Mechanisms Individual Behavior 210 535
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
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
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
C0018935 Hematocrit procedure phenotype Laboratory Procedure 138 216
C0201657 C-reactive protein measurement phenotype Laboratory Procedure 135 624