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: C0339546
Disease: Retinal Pigment Epithelial Detachment
Retinal Pigment Epithelial Detachment 		disease Eye Diseases Disease or Syndrome 17 3 0.020 None 1.000 2 1 2011 2017
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 194 269 0.100 None 1.000 28 2 2008 2018
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.050 None 0.800 5 2008 2018
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.030 None 1.000 3 1 2008 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.020 None 1.000 2 1 2012 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2018 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.700 limited 0.951 182 8 2005 2019
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		disease Disease or Syndrome 56 67 0.100 None 0.967 30 2 2009 2019
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		disease Eye Diseases Disease or Syndrome 85 81 0.200 None 0.882 17 2 2008 2019
CUI: C1260959
Disease: Drusen
Drusen 		disease Disease or Syndrome 57 18 0.090 None 1.000 9 2 2011 2019
CUI: C2609282
Disease: Reticular pseudodrusen
Reticular pseudodrusen 		disease Disease or Syndrome 10 10 0.080 None 0.875 8 1 2013 2019