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: 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: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		disease Eye Diseases Disease or Syndrome 158 109 0.200 None 1.000 28 4 2008 2017
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: 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: 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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.020 None 1.000 2 1 2008 2012
CUI: C0333641
Disease: Atrophic
Atrophic 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 58 1 0.010 None 1.000 1 2008 2008
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
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: C3151070
Disease: MACULAR DEGENERATION, AGE-RELATED, 8
MACULAR DEGENERATION, AGE-RELATED, 8 		disease Disease or Syndrome 1 0.300 None 0