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: C0271148
Disease: Secondary Open Angle Glaucoma
Secondary Open Angle Glaucoma
disease Eye Diseases Disease or Syndrome 13 0.300 None 1.000 1 2013 2013
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness
phenotype Clinical Attribute 35 61 0.100 None 1.000 1 1 2018 2018
CUI: C0018810
Disease: heart rate
heart rate
phenotype Clinical Attribute 36 103 0.100 None 1.000 1 1 2013 2013
CUI: C0524957
Disease: Corneal Topography
Corneal Topography
phenotype Diagnostic Procedure 39 98 0.100 None 1.000 1 2 2013 2013
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma
disease Eye Diseases Disease or Syndrome 103 56 0.010 None 1.000 1 2017 2017
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
disease Eye Diseases Disease or Syndrome 130 236 0.300 None 1.000 1 2013 2013
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement
phenotype Laboratory Procedure 160 355 0.100 None 1.000 1 1 2017 2017
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease
disease Nervous System Diseases Disease or Syndrome 179 65 0.010 None 1.000 1 2016 2016
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 6 6 2014 2018
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 1 2016 2016
CUI: C0489786
Disease: Height
Height
phenotype Organism Attribute 249 517 0.100 None 1.000 2 2 2010 2013
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors
phenotype Behavior and Behavior Mechanisms Individual Behavior 249 742 0.100 None 1.000 1 1 2017 2017
CUI: C0022578
Disease: Keratoconus
Keratoconus
disease Eye Diseases Disease or Syndrome 269 83 0.330 None 1.000 3 1 2013 2015
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder
disease Eye Diseases Disease or Syndrome 304 56 0.020 None 1.000 2 1 2014 2017
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
disease Eye Diseases Disease or Syndrome 383 222 0.350 None 1.000 5 2 2013 2019
CUI: C0037369
Disease: Smoking
Smoking
phenotype Behavior and Behavior Mechanisms Individual Behavior 391 765 0.100 None 1.000 1 1 2017 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.010 None 1.000 1 2016 2016
CUI: C0349566
Disease: Squamous cell carcinoma of tongue
Squamous cell carcinoma of tongue
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 462 2 0.010 None 1.000 1 2018 2018
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus
disease Digestive System Diseases; Neoplasms Disease or Syndrome 478 60 0.010 None 1.000 1 2018 2018
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.010 None 1.000 1 2016 2016
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 3 2 2018 2019
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 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 3 2016 2019
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
disease Neoplasms Neoplastic Process 651 21 0.300 None 1.000 1 2017 2017
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019