Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0596263 Carcinogenesis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355
C0338656 Impaired cognition disease Mental Disorders Mental or Behavioral Dysfunction Abnormality of the nervous system 1630 348
C0041296 Tuberculosis disease Infections Disease or Syndrome 1256 328
C2711227 Steatohepatitis disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 1143 75
C1305855 Body mass index phenotype Clinical Attribute 1014 2689
C3854222 Human immunodeficiency virus (HIV) II infection category B1 disease Disease or Syndrome 985 56
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931
C4529962 Fatty Liver Disease disease Disease or Syndrome 741 81
C0011265 Presenile dementia disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159
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
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 486 1243
C4552766 Miscarriage disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 426 56
C0027794 Neural Tube Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 304 122
C1314691 Age at menarche phenotype Behavior and Behavior Mechanisms Finding 267 591
C1519383 Smoking Behaviors phenotype Behavior and Behavior Mechanisms Individual Behavior 249 742
C0342257 Complications of Diabetes Mellitus group Endocrine System Diseases Disease or Syndrome 240 35
C2362324 Pediatric Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 191 67
C0278704 Malignant Childhood Neoplasm disease Neoplasms Neoplastic Process 179 34
C0018935 Hematocrit procedure phenotype Laboratory Procedure 138 216
C0043144 Wheezing phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the respiratory system 132 54
C0162701 Polysomnography phenotype Diagnostic Procedure 119 249
C0495706 elevated blood glucose level phenotype Finding 89 111