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: 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: C0022578
Disease: Keratoconus
Keratoconus
disease Eye Diseases Disease or Syndrome 269 83 0.330 None 1.000 3 1 2013 2015
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: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
disease Neoplasms Neoplastic Process 651 21 0.300 None 1.000 1 2017 2017
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.300 None 0
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 8 7 2010 2019
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 6 6 2014 2018
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 3 3 2016 2019
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
CUI: C0489786
Disease: Height
Height
phenotype Organism Attribute 249 517 0.100 None 1.000 2 2 2010 2013
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 1 2016 2016
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
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 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: C0524957
Disease: Corneal Topography
Corneal Topography
phenotype Diagnostic Procedure 39 98 0.100 None 1.000 1 2 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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 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: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement
phenotype Laboratory Procedure 160 355 0.100 None 1.000 1 1 2017 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.070 None 1.000 7 2009 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.050 None 1.000 5 2009 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.050 None 1.000 5 2009 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.050 None 1.000 5 2015 2019