Source: ALL
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: C1318312
Disease: Serum iron measurement
Serum iron measurement
phenotype Laboratory Procedure 17 25 0.100 None 1.000 1 2 2017 2017
Total iron binding capacity function
phenotype Clinical Attribute 20 35 0.100 None 1.000 1 1 2017 2017
Iron binding capacity total measurement
phenotype Laboratory Procedure 20 35 0.100 None 1.000 1 1 2017 2017
CUI: C1277709
Disease: Transferrin saturation measurement
Transferrin saturation measurement
phenotype Laboratory Procedure 26 36 0.100 None 1.000 1 2 2017 2017
Platelet Component Distribution Width Measurement
phenotype Laboratory Procedure 134 200 0.100 None 1.000 1 1 2016 2016
CUI: C0748355
Disease: Acute respiratory distress
Acute respiratory distress
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 147 6 0.010 None 1.000 1 2017 2017
Child Development Disorders, Pervasive
group Mental Disorders Mental or Behavioral Dysfunction 168 379 0.100 None 1.000 1 1 2017 2017
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 175 112 0.100 None 1.000 1 1 2018 2018
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 190 71 0.010 None 1.000 1 2011 2011
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
disease Mental Disorders Mental or Behavioral Dysfunction 202 72 0.100 None 1.000 1 1 2018 2018
CUI: C0018099
Disease: Gout
Gout
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 205 2354 0.100 None 1.000 2 33 2010 2013
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 206 2356 0.100 None 1.000 2 33 2010 2013
Platelet mean volume determination (procedure)
phenotype Laboratory Procedure 223 371 0.100 None 1.000 2 3 2012 2016
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.010 None 1.000 1 2011 2011
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
phenotype Laboratory Procedure 264 1463 0.100 None 1.000 1 10 2009 2009
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
phenotype Laboratory Procedure 265 457 0.100 None 1.000 3 4 2011 2016
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 269 549 0.100 None 1.000 1 2 2012 2012
CUI: C0011644
Disease: Scleroderma
Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.010 None 1.000 1 2019 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 1 2019 2019
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 95 2012 2012
Respiratory Distress Syndrome, Adult
disease Respiratory Tract Diseases Disease or Syndrome 434 60 0.010 None 1.000 1 2017 2017
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C0021704
Disease: Intelligence
Intelligence
phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 3 6 2018 2019
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 2 3 2012 2019