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: C0085636
Disease: Photophobia
Photophobia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.120 None 1.000 2 2 2008 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2017 2017
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: C0234629
Disease: Abnormal color vision
Abnormal color vision 		phenotype Finding 5 5 0.100 None 0 1
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype Finding 158 10 0.100 None 0
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy 		phenotype Finding 25 4 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: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		phenotype Finding 25 4 0.100 None 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		phenotype Finding 41 2 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: C4024799
Disease: Granular macular appearance
Granular macular appearance 		phenotype Finding 8 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 26 63 0.800 strong 0.982 56 23 2000 2019
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 20 14 0.100 None 0.978 46 9 1998 2019
CUI: C1857618
Disease: Achromatopsia 2
Achromatopsia 2 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 43 0.940 None 1.000 26 43 1998 2019
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		disease Eye Diseases Disease or Syndrome 48 31 0.140 None 1.000 5 2 2008 2019
CUI: C3665342
Disease: Progressive Cone Dystrophy
Progressive Cone Dystrophy 		disease Eye Diseases Disease or Syndrome 7 2 0.050 None 1.000 5 2001 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 0.430 None 1.000 4 2004 2018
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.030 None 1.000 3 2018 2019
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 86 53 0.130 None 1.000 3 1 2014 2019
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.030 None 1.000 3 2015 2019
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.310 None 1.000 2 2014 2017
CUI: C0242225
Disease: Color blindness
Color blindness 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 33 4 0.310 None 1.000 2 2 2008 2018
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 83 109 0.020 None 1.000 2 2014 2015