Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 14 0.010 1.000 1 1994 1994
Vitamin D-Resistant Rickets, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 27 9 0.010 1.000 1 1994 1994
Hypophosphatemic Rickets, X-Linked Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 30 48 0.010 1.000 1 1994 1994
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Digestive System Diseases Experimental Model of Disease 800 0.300 2 2007 2015
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
phenotype Laboratory Procedure 111 2331 0.100 5 155 2009 2016
CUI: C0373607
Disease: Ferritin measurement
Ferritin measurement
phenotype Laboratory Procedure 22 155 0.100 3 2 2009 2011
CUI: C0268079
Disease: Hyperphosphaturia
Hyperphosphaturia
disease Disease or Syndrome 38 0.010 1.000 1 2009 2009
CUI: C0282201
Disease: Phosphate Diabetes
Phosphate Diabetes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.010 1.000 1 2009 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.100 1 2 2009 2009
Mean corpuscular hemoglobin concentration determination
phenotype Laboratory Procedure 100 583 0.100 1 6 2009 2009
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 386 4531 0.100 3 97 2011 2012
Erythrocyte Mean Corpuscular Hemoglobin Test
phenotype Laboratory Procedure 386 4531 0.100 3 97 2011 2012
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 193 435 0.100 1 1 2012 2012
CUI: C0149896
Disease: Primary gout
Primary gout
disease Disease or Syndrome 14 0.010 1.000 1 2015 2015
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 116 13 0.010 1.000 1 2016 2016
CUI: C0018099
Disease: Gout
Gout
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 70 90 0.100 1 1 2017 2017
CUI: C0021704
Disease: Intelligence
Intelligence
phenotype Behavior and Behavior Mechanisms Mental Process 213 679 0.100 1 3 2018 2018