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: 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: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
Anterior segment mesenchymal dysgenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 13 2 0.300 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: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET
disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0271183
Disease: Severe myopia
Severe myopia
disease Eye Diseases Disease or Syndrome 184 116 0.100 None 0 2
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: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 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: C1299694
Disease: Glaucomatous visual field defect
Glaucomatous visual field defect
phenotype Finding 3 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: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype Eye Diseases Finding 113 5 0.100 None 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 43 2 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
GLAUCOMA 1, OPEN ANGLE, D (disorder)
disease Eye Diseases Disease or Syndrome 2 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: C0085109
Disease: Corneal Neovascularization
Corneal Neovascularization
disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 117 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
CUI: C3805911
Disease: Increased cup-to-disc ratio
Increased cup-to-disc ratio
phenotype Finding 4 1 0.100 None 0
Abnormal Descemet membrane morphology
phenotype Anatomical Abnormality 2 1 0.100 None 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
group Eye Diseases; Nervous System Diseases Disease or Syndrome 112 2 0.100 None 0
CUI: C4477011
Disease: Thinning of Descemet membrane
Thinning of Descemet membrane
phenotype Finding 5 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: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0