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: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 2 2 2016 2017
CUI: C0523677
Disease: Glycine measurement
Glycine measurement
phenotype Laboratory Procedure 32 68 0.100 None 1.000 2 2 2019 2019
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
phenotype Laboratory or Test Result 139 296 0.100 None 1.000 2 2 2016 2018
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.020 None 1.000 2 2006 2018
CUI: C1531624
Disease: Cardioembolic stroke
Cardioembolic stroke
disease Disease or Syndrome 42 28 0.020 None 1.000 2 1 2013 2016
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement
phenotype Laboratory Procedure 15 42 0.100 None 1.000 2 3 2010 2019
Soluble Interleukin 6 Receptor Measurement
phenotype Laboratory Procedure 17 25 0.100 None 1.000 2 2 2012 2012
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
disease Disease or Syndrome 632 9 0.020 None 1.000 2 2017 2019
Large-artery atherosclerosis (embolus/thrombosis)
disease Disease or Syndrome 48 35 0.020 None 1.000 2 1 2016 2019
CUI: C4722217
Disease: E-selectin Measurement
E-selectin Measurement
phenotype Laboratory Procedure 2 6 0.100 None 1.000 2 3 2017 2019
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement
phenotype Laboratory Procedure 90 174 0.100 None 1.000 1 1 2018 2018
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 1 2019 2019
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
phenotype Laboratory Procedure 265 457 0.100 None 1.000 1 1 2016 2016
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0162701
Disease: Polysomnography
Polysomnography
phenotype Diagnostic Procedure 119 249 0.100 None 1.000 1 5 2012 2012
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 1 2016 2016
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement
phenotype Laboratory Procedure 29 51 0.100 None 1.000 1 1 2018 2018
CUI: C0202202
Disease: Protein measurement
Protein measurement
group Laboratory Procedure 75 422 0.100 None 1.000 1 35 2012 2012
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 1 2016 2016
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer
disease Neoplastic Process 145 9 0.010 None < 0.001 1 2017 2017
CUI: C0282666
Disease: Very Low Birth Weight
Very Low Birth Weight
phenotype Sign or Symptom 42 2 0.010 None 1.000 1 2019 2019
CUI: C0337438
Disease: Glucose measurement
Glucose measurement
phenotype Laboratory Procedure 89 111 0.100 None 1.000 1 1 2011 2011
CUI: C0428321
Disease: Measurement of liver enzyme
Measurement of liver enzyme
phenotype Laboratory Procedure 7 10 0.100 None 1.000 1 1 2008 2008
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012