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: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease Eye Diseases Disease or Syndrome 67 9 0.100 None 0
CUI: C2745945
Disease: Juvenile-Onset Vitelliform Macular Dystrophy
Juvenile-Onset Vitelliform Macular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 0.300 None 0
CUI: C3150819
Disease: RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 56 		disease Disease or Syndrome 1 5 0.600 None 0 5
CUI: C4021563
Disease: Retinal nonattachment
Retinal nonattachment 		disease Eye Diseases Congenital Abnormality 7 0.100 None 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.100 None 0
CUI: C2937228
Disease: Tunnel visual field constriction
Tunnel visual field constriction 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 56 29 0.100 None 1.000 1 1 2010 2010
CUI: C0009398
Disease: Color vision defect
Color vision defect 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 94 4 0.100 None 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 216 12 0.100 None 0
CUI: C0085636
Disease: Photophobia
Photophobia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.100 None 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 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: C0154920
Disease: Pigmentary iris degeneration
Pigmentary iris degeneration 		phenotype Eye Diseases; Skin and Connective Tissue Diseases Finding 37 0.100 None 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 147 10 0.100 None 0
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.100 None 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype Finding 158 10 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype Finding 215 5 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 101 1 0.100 None 0
CUI: C4024817
Disease: Vitelliform-like macular lesions
Vitelliform-like macular lesions 		phenotype Finding 4 0.100 None 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		phenotype Eye Diseases Finding 87 3 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.100 None 1.000 1 1 2017 2017