Source: GWASCAT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0035410 Rhabdomyolysis phenotype Musculoskeletal Diseases Pathologic Function Abnormality of the musculature 1 1
C0036983 Septic Shock phenotype Pathological Conditions, Signs and Symptoms; Infections Pathologic Function disease by infectious agent 1 1
C0040137 Thyroid Nodule disease Neoplasms; Endocrine System Diseases Neoplastic Process Abnormality of the endocrine system 1 1
C0040479 Torsades de Pointes disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 1 1
C0041318 Tuberculosis, Meningeal disease Infections; Nervous System Diseases Disease or Syndrome 1 1
C0042580 Vesico-Ureteral Reflux disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 1 1
C0085652 Pyoderma Gangrenosum disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 1 1
C0149630 Bicuspid aortic valve disease Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 1 1
C0149721 Left Ventricular Hypertrophy disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 1 1
C0149756 Fasciitis, Plantar disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 1 1
C0155883 Chronic obstructive asthma (with obstructive pulmonary disease) disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 1 1
C0158360 Fibromatosis, Plantar disease Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 1 1
C0162275 Ketonuria disease Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 1 1
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 1 1
C0236663 Alcohol withdrawal syndrome disease Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 1 1
C0270853 Juvenile Myoclonic Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 1 1
C0271055 Rhegmatogenous retinal detachment disease Eye Diseases Disease or Syndrome Abnormality of the eye 1 1
C0274294 Chronic mountain sickness disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 1 1
C0333188 Stricture obstruction phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 1 1
C0333189 Cicatricial stenosis phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 1 1
C0333190 Fibrous stenosis phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 1 1
C0373598 Dehydroepiandrosterone Assay phenotype Laboratory Procedure 1 1
C0373680 Myoglobin measurement phenotype Laboratory Procedure 1 1
C0392514 Hereditary hemochromatosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1 1
C0428402 Human chorionic gonadotropin measurement phenotype Laboratory Procedure 1 1