Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 111 0.46 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 34 128 0.26 3 7.1E-02
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 128 0.24 0 0
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 55 0.16 1 1.6E-02
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 85 0.15 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 53 0.14 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 227 54 0.14 1 4.2E-03
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 46 0.13 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 47 0.13 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 541 81 0.12 3 5.5E-03
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 45 0.11 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 0 109 0.11 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 76 0.10 0 0
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		100 0 31 0.10 0 0
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		148 0 35 0.10 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 92 1.0E-01 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 92 1.0E-01 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 95 9.8E-02 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 41 9.7E-02 0 0
CUI: C0018979
Disease: Hemianopsia
Hemianopsia 		41 0 24 9.5E-02 0 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		77 0 27 9.5E-02 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 0 86 9.2E-02 0 0
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		714 56 79 9.1E-02 3 4.7E-02
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		42 0 23 9.1E-02 0 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		43 0 23 9.0E-02 0 0