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.
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 3 4 2016 2019
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 3 4 2016 2019
Activated Partial Thromboplastin Time measurement
phenotype Laboratory Procedure 17 44 0.100 None 1.000 3 3 2012 2018
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
phenotype Laboratory Procedure 131 224 0.100 None 1.000 3 4 2010 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 3 22 2018 2019
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
phenotype Laboratory Procedure 135 624 0.100 None 1.000 2 12 2012 2018
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
phenotype Laboratory Procedure 138 216 0.100 None 1.000 2 3 2016 2018
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 2 2 2016 2017
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement
phenotype Laboratory Procedure 15 42 0.100 None 1.000 2 3 2010 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 2 3 2018 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 2 2 2016 2019
Soluble Interleukin 6 Receptor Measurement
phenotype Laboratory Procedure 17 25 0.100 None 1.000 2 2 2012 2012
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
Thyroid stimulating hormone measurement
phenotype Laboratory Procedure 42 83 0.100 None 1.000 2 2 2013 2015
CUI: C0523677
Disease: Glycine measurement
Glycine measurement
phenotype Laboratory Procedure 32 68 0.100 None 1.000 2 2 2019 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: C1527304
Disease: Allergic Reaction
Allergic Reaction
phenotype Immune System Diseases Pathologic Function 197 1019 0.100 None 1.000 2 2 2016 2019
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
phenotype Laboratory Procedure 139 296 0.100 None 1.000 2 2 2016 2018
CUI: C0441683
Disease: Hormone measurement
Hormone measurement
group Laboratory Procedure 51 134 0.100 None 1.000 1 1 2013 2013
CUI: C2825856
Disease: Factor VII measurement
Factor VII measurement
phenotype Laboratory Procedure 16 36 0.100 None 1.000 1 3 2013 2013
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement
phenotype Laboratory Procedure 39 568 0.100 None 1.000 1 10 2011 2011
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
Fibroblast Growth Factor 23 Measurement
phenotype Laboratory Procedure 6 13 0.100 None 1.000 1 1 2018 2018
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level
phenotype Finding 89 111 0.100 None 1.000 1 1 2011 2011
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement
phenotype Laboratory Procedure 23 33 0.100 None 1.000 1 1 2017 2017