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.
MACULAR DEGENERATION, AGE-RELATED, 8
disease Disease or Syndrome 1 0.300 None 0
Choroidal vascular hyperpermeability
phenotype Anatomical Abnormality 5 3 0.020 None 1.000 2 1 2014 2016
CUI: C0730295
Disease: BASAL LAMINAR DRUSEN (disorder)
BASAL LAMINAR DRUSEN (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 5 5 0.010 None 1.000 1 2012 2012
CUI: C1720251
Disease: Retinal pigment epithelium atrophy
Retinal pigment epithelium atrophy
disease Acquired Abnormality 7 2 0.030 None 0.667 3 1 2014 2017
CUI: C0035312
Disease: Retinal Drusen
Retinal Drusen
disease Eye Diseases Disease or Syndrome 9 0.010 None 1.000 1 2012 2012
CUI: C2609282
Disease: Reticular pseudodrusen
Reticular pseudodrusen
disease Disease or Syndrome 10 10 0.080 None 0.875 8 1 2013 2019
CUI: C1720452
Disease: Soft drusen
Soft drusen
disease Disease or Syndrome 10 5 0.010 None 1.000 1 2014 2014
CUI: C2609315
Disease: Retinal angiomatous proliferation
Retinal angiomatous proliferation
disease Disease or Syndrome 12 4 0.060 None 1.000 6 1 2010 2017
CUI: C0154822
Disease: Serous retinal detachment
Serous retinal detachment
disease Eye Diseases Disease or Syndrome 12 2 0.010 None 1.000 1 1 2011 2011
Chronic central serous chorioretinopathy
disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 13 5 0.010 None 1.000 1 2015 2015
Retinal Pigment Epithelial Detachment
disease Eye Diseases Disease or Syndrome 17 3 0.020 None 1.000 2 1 2011 2017
Wet age-related macular degeneration
disease Disease or Syndrome 20 2 0.010 None 1.000 1 2012 2012
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
disease Disease or Syndrome 23 317 0.010 None 1.000 1 2012 2012
CUI: C0600518
Disease: Choroidal Neovascularization
Choroidal Neovascularization
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 31 3 0.020 None 1.000 2 2008 2008
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 44 16 0.010 None 1.000 1 2010 2010
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration
disease Eye Diseases Disease or Syndrome 49 69 0.100 None 1.000 4 2 2012 2017
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: C1260959
Disease: Drusen
Drusen
disease Disease or Syndrome 57 18 0.090 None 1.000 9 2 2011 2019
CUI: C0333641
Disease: Atrophic
Atrophic
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 58 1 0.010 None 1.000 1 2008 2008
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: C0033626
Disease: Protein Deficiency
Protein Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 125 2 0.020 None 1.000 2 2011 2017
Exudative age-related macular degeneration
disease Eye Diseases Disease or Syndrome 158 109 0.200 None 1.000 28 4 2008 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: C0730328
Disease: Central Serous Chorioretinopathy
Central Serous Chorioretinopathy
disease Eye Diseases Disease or Syndrome 211 10 0.010 None 1.000 1 1 2016 2016
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.010 None 1.000 1 2008 2008