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: 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: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.010 None 1.000 1 2009 2009
CUI: C0489786
Disease: Height
Height
phenotype Organism Attribute 249 517 0.100 None 1.000 2 2 2010 2013
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: C0524957
Disease: Corneal Topography
Corneal Topography
phenotype Diagnostic Procedure 39 98 0.100 None 1.000 1 2 2013 2013
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: C0018810
Disease: heart rate
heart rate
phenotype Clinical Attribute 36 103 0.100 None 1.000 1 1 2013 2013
CUI: C0022578
Disease: Keratoconus
Keratoconus
disease Eye Diseases Disease or Syndrome 269 83 0.330 None 1.000 3 1 2013 2015
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2016 2016
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 1 2016 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.010 None 1.000 1 2016 2016
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: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.010 None 1.000 1 2016 2016
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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2016 2016
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: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2012 2017
Squamous cell carcinoma of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.010 None 1.000 1 2017 2017
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.010 None 1.000 1 2017 2017
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement
phenotype Laboratory Procedure 160 355 0.100 None 1.000 1 1 2017 2017
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: 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: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2017 2017
Liver and Intrahepatic Biliary Tract Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 2017 2017
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2017 2017