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: C0522274
Disease: Humoral immune defect
Humoral immune defect
group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 29 0.010 None 1.000 1 2013 2013
CUI: C0600502
Disease: Vascular Hemostatic Disorders
Vascular Hemostatic Disorders
group Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2018 2018
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease
group Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 101 14 0.010 None 1.000 1 2016 2016
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
group Infections; Respiratory Tract Diseases Disease or Syndrome 185 1 0.010 None 1.000 1 2009 2009
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.010 None 1.000 1 2018 2018
CUI: C3249881
Disease: Infection - suppurative
Infection - suppurative
group Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 20 0.010 None 1.000 1 2017 2017
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.010 None 1.000 1 2000 2000
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases
group Digestive System Diseases Disease or Syndrome 83 88 0.400 None 1.000 1 1 2018 2018
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
phenotype Cardiovascular Diseases Disease or Syndrome 378 408 0.200 None 0.958 24 46 2005 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: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement
phenotype Laboratory Procedure 42 79 0.100 None 1.000 4 5 2008 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.040 None 1.000 4 2004 2019
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: C0010200
Disease: Coughing
Coughing
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 235 16 0.020 None 1.000 2 2011 2014
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