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: C0271183
Disease: Severe myopia
Severe myopia 		disease Eye Diseases Disease or Syndrome 184 116 0.100 None 1.000 10 2001 2019
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.090 None 1.000 9 2017 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.040 None 1.000 4 2011 2018
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.040 None 1.000 4 2018 2019
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		group Eye Diseases Disease or Syndrome 49 24 0.040 None 1.000 4 2017 2019
CUI: C3665926
Disease: Myopic choroidal neovascularization
Myopic choroidal neovascularization 		disease Disease or Syndrome 7 0.040 None 0.750 4 2017 2019
CUI: C0155360
Disease: Staphyloma posticum
Staphyloma posticum 		disease Eye Diseases Disease or Syndrome 4 1 0.040 None 1.000 4 2017 2019
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.030 None 1.000 3 2018 2019
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		disease Eye Diseases Disease or Syndrome 158 109 0.030 None 1.000 3 2018 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.030 None 1.000 3 2016 2019
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		disease Eye Diseases Disease or Syndrome 24 4 0.030 None 1.000 3 2019 2020
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.020 None 1.000 2 2008 2019
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease Eye Diseases Disease or Syndrome 148 10 0.020 None 1.000 2 2008 2020
CUI: C0154822
Disease: Serous retinal detachment
Serous retinal detachment 		disease Eye Diseases Disease or Syndrome 12 2 0.010 None 1.000 1 2018 2018
CUI: C0034951
Disease: Refractive Errors
Refractive Errors 		group Eye Diseases Disease or Syndrome 71 75 0.010 None 1.000 1 2019 2019
CUI: C1282209
Disease: Choroidal neovascular membrane (disorder)
Choroidal neovascular membrane (disorder) 		disease Disease or Syndrome 7 1 0.010 None 1.000 1 2019 2019
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		disease Skin and Connective Tissue Diseases Disease or Syndrome 39 2 0.010 None 1.000 1 2019 2019
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 9 0.010 None 1.000 1 2019 2019
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		disease Disease or Syndrome 56 67 0.010 None 1.000 1 2019 2019
CUI: C1533060
Disease: Multifocal choroiditis
Multifocal choroiditis 		disease Disease or Syndrome 5 1 0.010 None 1.000 1 2019 2019
CUI: C1834531
Disease: MYOPIA 2 (disorder)
MYOPIA 2 (disorder) 		disease Eye Diseases Disease or Syndrome 3 0.010 None 1.000 1 2005 2005
CUI: C0030343
Disease: Panuveitis
Panuveitis 		disease Eye Diseases Disease or Syndrome 13 2 0.010 None 1.000 1 2019 2019
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 0.010 None 1.000 1 2018 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.010 None 1.000 1 2008 2008
CUI: C0730321
Disease: Punctate inner choroidopathy
Punctate inner choroidopathy 		disease Eye Diseases Disease or Syndrome 14 0.010 None 1.000 1 2019 2019