Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C3241937 Nonalcoholic Steatohepatitis disease Digestive System Diseases Disease or Syndrome 434 17
C0017741 Glucose tolerance test phenotype Laboratory Procedure 17 28
C0015695 Fatty Liver disease Digestive System Diseases Disease or Syndrome genetic disease; disease of metabolism 875 35
C0428302 Calcium level result phenotype Laboratory or Test Result 14 51
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
C0239946 Fibrosis, Liver disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 1179 64
C0201925 Calcium measurement phenotype Laboratory Procedure 23 71
C2711227 Steatohepatitis disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 1143 75
C4529962 Fatty Liver Disease disease Disease or Syndrome 741 81
C0020456 Hyperglycemia disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 1098 108
C0337438 Glucose measurement phenotype Laboratory Procedure 89 111
C0495706 elevated blood glucose level phenotype Finding 89 111
C1261430 Fasting blood sugar result phenotype Laboratory or Test Result 65 113
C0027794 Neural Tube Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 304 122
C0020557 Hypertriglyceridemia phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169
C0242339 Dyslipidemias group Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 471 184
C0018801 Heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1499 201
C0428568 Fasting blood glucose measurement phenotype Laboratory Procedure 96 212
C0018935 Hematocrit procedure phenotype Laboratory Procedure 138 216
C0400966 Non-alcoholic Fatty Liver Disease disease Digestive System Diseases Disease or Syndrome genetic disease; disease of metabolism 1058 222
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
C0578022 Finding of body mass index phenotype Finding 88 252
C0005893 Body mass index procedure phenotype Diagnostic Procedure 88 252
C0346647 Malignant neoplasm of pancreas disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 2667 277
C1561643 Chronic Kidney Diseases group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 1074 306