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.
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.100 None 0.909 11 2006 2017
CUI: C0005806
Disease: Blood Group Incompatibility
Blood Group Incompatibility
disease Disease or Syndrome 6 0.100 None 0.900 10 1995 2019
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 8 5 2012 2019
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 7 7 2012 2019
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 6 5 2014 2018
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test)
phenotype Laboratory Procedure 55 427 0.100 None 1.000 6 59 2010 2019
CUI: C3665905
Disease: Passenger lymphocyte syndrome
Passenger lymphocyte syndrome
disease Disease or Syndrome 3 0.060 None 1.000 6 2015 2019
CUI: C0948201
Disease: Alloimmunisation
Alloimmunisation
disease Disease or Syndrome 65 3 0.050 None 1.000 5 1996 2020
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement
phenotype Laboratory Procedure 42 79 0.100 None 1.000 4 5 2008 2018
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 4 20 2010 2018
Activated Partial Thromboplastin Time measurement
phenotype Laboratory Procedure 17 44 0.100 None 1.000 3 3 2012 2018
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 3 4 2016 2019
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
phenotype Laboratory Procedure 131 224 0.100 None 1.000 3 4 2010 2018
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 269 549 0.100 None 1.000 3 4 2016 2018
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 3 3 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
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 3 22 2018 2019
CUI: C4324411
Disease: Blood type incompatibility
Blood type incompatibility
disease Disease or Syndrome 1 0.030 None 1.000 3 2019 2020
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: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
phenotype Laboratory Procedure 138 216 0.100 None 1.000 2 3 2016 2018
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
phenotype Laboratory Procedure 139 296 0.100 None 1.000 2 2 2016 2018
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 2 2 2016 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
Thyroid stimulating hormone measurement
phenotype Laboratory Procedure 42 83 0.100 None 1.000 2 2 2013 2015
CUI: C0235575
Disease: Hemolytic reaction
Hemolytic reaction
phenotype Disease or Syndrome 4 0.020 None 1.000 2 1982 2019