Source: ALL
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: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
phenotype Laboratory Procedure 265 457 0.100 None 1.000 2 2 2011 2016
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 2 2018 2018
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay
phenotype Laboratory Procedure 55 143 0.100 None 1.000 2 2 2016 2017
CUI: C2697765
Disease: Interleukin 17 Measurement
Interleukin 17 Measurement
phenotype Laboratory Procedure 7 8 0.100 None 1.000 1 1 2017 2017
Platelet mean volume determination (procedure)
phenotype Laboratory Procedure 223 371 0.100 None 1.000 1 1 2016 2016
Platelet Component Distribution Width Measurement
phenotype Laboratory Procedure 134 200 0.100 None 1.000 1 1 2016 2016
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 48 7 0.010 None 1.000 1 2012 2012
CUI: C0021670
Disease: insulinoma
insulinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 258 8 0.010 None 1.000 1 2018 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 1 2017 2017
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
disease Eye Diseases Disease or Syndrome 87 55 0.010 None 1.000 1 1 2014 2014
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
disease Eye Diseases Disease or Syndrome 383 222 0.010 None < 0.001 1 1 2014 2014
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.010 None 1.000 1 1 2017 2017
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
disease Eye Diseases Disease or Syndrome 94 56 0.010 None 1.000 1 1 2014 2014
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease Eye Diseases Disease or Syndrome 770 198 0.010 None 1.000 1 2014 2014
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 1 2017 2017