CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0523465 Serum albumin measurement phenotype Laboratory Procedure 426 3265
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
C0027404 Narcolepsy disease Nervous System Diseases; Mental Disorders Disease or Syndrome disease of mental health Abnormality of the nervous system 202 436
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 201 488
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 166 388
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
C0004096 Asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 110 263
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 104 332
C0005893 Body mass index procedure phenotype Diagnostic Procedure 78 231
C0578022 Finding of body mass index phenotype Finding 78 231
C0428568 Fasting blood glucose measurement phenotype Laboratory Procedure 73 132
C0021390 Inflammatory Bowel Diseases group Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 72 122
C1261430 Fasting blood sugar result phenotype Laboratory or Test Result 65 113
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 40 110
C1629609 Age at menopause phenotype Finding 34 54
C0038454 Cerebrovascular accident group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 30 62
C1272321 Autoantibody measurement phenotype Laboratory Procedure 26 49
C0005684 Malignant neoplasm of urinary bladder disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 12 22
C0005612 Birth Weight phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 6 15
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 2 9