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: 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: C3805911
Disease: Increased cup-to-disc ratio
Increased cup-to-disc ratio 		phenotype Finding 4 1 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: C4016760
Disease: GLAUCOMA, EARLY-ONSET, DIGENIC
GLAUCOMA, EARLY-ONSET, DIGENIC 		disease Finding 1 1 0.100 None 0 1
CUI: C4023327
Disease: Central opacification of the cornea
Central opacification of the cornea 		phenotype Finding 5 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: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		disease Anatomical Abnormality 27 0.100 None 0
CUI: C4310623
Disease: ANTERIOR SEGMENT DYSGENESIS 6
ANTERIOR SEGMENT DYSGENESIS 6 		disease Disease or Syndrome 2 2 0.100 None 0 2
CUI: C0085109
Disease: Corneal Neovascularization
Corneal Neovascularization 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 117 0.100 None 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		phenotype Eye Diseases Finding 113 5 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: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 limited 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: C0035302
Disease: Retinal Artery Occlusion
Retinal Artery Occlusion 		disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 9 1 0.100 None 0
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease Eye Diseases Disease or Syndrome 148 10 0.100 None 0
CUI: C0241688
Disease: Peripheral visual field loss
Peripheral visual field loss 		phenotype Finding 19 4 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: C0271183
Disease: Severe myopia
Severe myopia 		disease Eye Diseases Disease or Syndrome 184 116 0.100 None 0 2
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: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 46 10 0.100 None 0
CUI: C4477011
Disease: Thinning of Descemet membrane
Thinning of Descemet membrane 		phenotype Finding 5 0.100 None 0
CUI: C1299694
Disease: Glaucomatous visual field defect
Glaucomatous visual field defect 		phenotype Finding 3 0.100 None 0
CUI: C0152253
Disease: Posterior synechiae
Posterior synechiae 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0152252
Disease: Anterior synechiae
Anterior synechiae 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 0.100 None 0