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: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
phenotype Cardiovascular Diseases Disease or Syndrome 124 0.200 None 0.958 9 45 2005 2019
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 0.100 None 1.000 8 5 2012 2019
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 0.100 None 1.000 7 7 2012 2019
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 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 0.100 None 1.000 6 59 2010 2019
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement
phenotype Laboratory Procedure 42 0.100 None 1.000 4 5 2008 2018
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 0.100 None 1.000 4 20 2010 2018
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 47 0.200 None 0.962 4 2 2009 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 269 0.500 None 0.900 3 2 2010 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 0.100 None 1.000 3 22 2018 2019
Activated Partial Thromboplastin Time measurement
phenotype Laboratory Procedure 17 0.100 None 1.000 3 3 2012 2018
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 0.100 None 1.000 3 4 2016 2019
Red cell distribution width determination
phenotype Laboratory Procedure 593 0.100 None 1.000 3 4 2016 2019
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
phenotype Laboratory Procedure 131 0.100 None 1.000 3 4 2010 2018
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 641 0.100 None 1.000 3 3 2016 2019
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 532 0.150 None 1.000 3 3 1989 2019
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 269 0.100 None 1.000 3 4 2016 2018
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 73 0.150 None 0.857 2 2 2012 2018
Thyroid stimulating hormone measurement
phenotype Laboratory Procedure 42 0.100 None 1.000 2 2 2013 2015
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
phenotype Immune System Diseases Pathologic Function 140 0.100 None 1.000 2 2 2016 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 0.100 None 1.000 2 2 2016 2017
CUI: C0523677
Disease: Glycine measurement
Glycine measurement
phenotype Laboratory Procedure 32 0.100 None 1.000 2 2 2019 2019
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
phenotype Laboratory Procedure 135 0.100 None 1.000 2 12 2012 2018
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
phenotype Laboratory or Test Result 139 0.100 None 1.000 2 2 2016 2018
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 0.100 None 1.000 2 2 2016 2019