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.
Creatinine measurement, serum (procedure)
phenotype Laboratory Procedure 124 243 0.100 None 1.000 3 3 2016 2019
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.100 None 1.000 3 2 2010 2019
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
phenotype Laboratory Procedure 264 1463 0.100 None 1.000 2 2 2013 2019
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement
phenotype Laboratory Procedure 90 174 0.100 None 1.000 2 2 2017 2019
CUI: C0202202
Disease: Protein measurement
Protein measurement
group Laboratory Procedure 75 422 0.100 None 1.000 1 1 2016 2016
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 1 2018 2018
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C0455273
Disease: Serum urea measurement
Serum urea measurement
phenotype Laboratory Procedure 5 10 0.100 None 1.000 1 1 2019 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2017 2017
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2012 2012
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
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement
group Laboratory Procedure 53 92 0.100 None 1.000 1 1 2016 2016
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2012 2012
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2012 2012
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C0154830
Disease: Proliferative diabetic retinopathy
Proliferative diabetic retinopathy
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 180 45 0.100 None 1.000 1 1 2019 2019
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C0018099
Disease: Gout
Gout
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 205 2354 0.100 None 1.000 1 1 2013 2013
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 13 2012 2012
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 206 2356 0.100 None 1.000 1 1 2013 2013
CUI: C2239101
Disease: Hemoglobin, CTCAE
Hemoglobin, CTCAE
phenotype Finding 7 26 0.100 None 1.000 1 1 2009 2009
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.100 None 1.000 1 1 2011 2011
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
disease Eye Diseases Disease or Syndrome 130 236 0.100 None 1.000 1 1 2018 2018
CUI: C3671015
Disease: Myofiber disarray
Myofiber disarray
phenotype Anatomical Abnormality 2 0.100 None 0