CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0036341 Schizophrenia disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 578 1433
C0017654 Glomerular Filtration Rate phenotype Diagnostic Procedure 399 1031
C0005586 Bipolar Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 213 366
C0008074 Child Development Disorders, Pervasive group Mental Disorders Mental or Behavioral Dysfunction 165 379
C0011854 Diabetes Mellitus, Insulin-Dependent disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 104 198
C0424574 Duration of sleep phenotype Finding 101 200
C0242383 Age related macular degeneration disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 62 123
C0920350 Autoimmune thyroiditis disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 44 66
C0202075 17 Hydroxyprogesterone measurement phenotype Laboratory Procedure 7 19
C0270911 Charcot-Marie-Tooth Disease, Type Ia (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 5 10