CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0023530 Leukopenia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of blood and blood-forming tissues 3 6
C1295176 Leptin measurement phenotype Laboratory Procedure 5 9
C0451641 Urolithiasis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 12 17
C0425782 Breast size phenotype Finding 16 38
C0730345 Microalbuminuria phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 22 31
C0025202 melanoma disease Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 25 35
C0151779 Cutaneous Melanoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 32 42
C0153535 Malignant melanoma of skin of upper limb disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 32 42
C0153536 Malignant melanoma of skin of lower limb disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 32 42
C0018801 Heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 38 82
C0409959 Osteoarthritis, Knee disease Musculoskeletal Diseases Disease or Syndrome Abnormality of limbs; Abnormality of the skeletal system 38 59
C0337438 Glucose measurement phenotype Laboratory Procedure 42 69
C0337443 Sodium measurement phenotype Laboratory Procedure 42 69
C0495706 elevated blood glucose level phenotype Finding 42 69
C0005910 Body Weight phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 45 91
C0001973 Alcoholic Intoxication, Chronic disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 45 85
C0236664 Alcohol-Related Disorders group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health 45 85
C0236970 Alcohol-Induced Disorders group Chemically-Induced Disorders Disease or Syndrome disease of mental health 45 85
C2607914 Allergic rhinitis (disorder) disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of head or neck 46 72
C0029410 Osteoarthritis of hip disease Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 49 81
C0524620 Metabolic Syndrome X disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; syndrome 55 124
C0518026 body fat percentage (physical finding) phenotype Finding 56 98
C0011847 Diabetes disease Endocrine System Diseases Disease or Syndrome disease of metabolism 63 104
C0011849 Diabetes Mellitus group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 63 104
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 67 119