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: C3805911
Disease: Increased cup-to-disc ratio
Increased cup-to-disc ratio 		phenotype Finding 4 1 0.100 None 0
CUI: C1832977
Disease: GLAUCOMA 3, PRIMARY INFANTILE, B
GLAUCOMA 3, PRIMARY INFANTILE, B 		disease Eye Diseases Disease or Syndrome 4 2 0.400 None 0 2
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		disease Anatomical Abnormality 27 0.100 None 0
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		phenotype Anatomical Abnormality 2 1 0.100 None 0
CUI: C4023327
Disease: Central opacification of the cornea
Central opacification of the cornea 		phenotype Finding 5 0.100 None 0
CUI: C1856441
Disease: Late onset congenital glaucoma
Late onset congenital glaucoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 0.100 None 0
CUI: C4016760
Disease: GLAUCOMA, EARLY-ONSET, DIGENIC
GLAUCOMA, EARLY-ONSET, DIGENIC 		disease Finding 1 1 0.100 None 0 1
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 13 2 0.300 None 0
CUI: C1865427
Disease: GLAUCOMA 1, OPEN ANGLE, D (disorder)
GLAUCOMA 1, OPEN ANGLE, D (disorder) 		disease Eye Diseases Disease or Syndrome 2 1 0.100 None 0 1
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		phenotype Eye Diseases Finding 113 5 0.100 None 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 115 6 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.100 None 0
CUI: C3278153
Disease: GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET
GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0241688
Disease: Peripheral visual field loss
Peripheral visual field loss 		phenotype Finding 19 4 0.100 None 0
CUI: C1299694
Disease: Glaucomatous visual field defect
Glaucomatous visual field defect 		phenotype Finding 3 0.100 None 0
CUI: C0344299
Disease: Temporal pallor of optic disc
Temporal pallor of optic disc 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C3152182
Disease: Anterior chamber anomalies
Anterior chamber anomalies 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 18 1 0.100 None 0
CUI: C0035328
Disease: Retinal Vein Occlusion
Retinal Vein Occlusion 		disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 76 15 0.100 None 0
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Acquired Abnormality 17 1 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C0085109
Disease: Corneal Neovascularization
Corneal Neovascularization 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 117 0.100 None 0