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: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		32 52 6 7.7E-02 1 9.1E-03
CUI: C1320640
Disease: Peripheral retinal degeneration
Peripheral retinal degeneration 		4 0 4 7.7E-02 0 0
CUI: C1838644
Disease: Stargardt disease 3
Stargardt disease 3 		4 0 4 7.7E-02 0 0
CUI: C2745945
Disease: Juvenile-Onset Vitelliform Macular Dystrophy
Juvenile-Onset Vitelliform Macular Dystrophy 		4 0 4 7.7E-02 0 0
CUI: C4024817
Disease: Vitelliform-like macular lesions
Vitelliform-like macular lesions 		4 0 4 7.7E-02 0 0
CUI: C0241688
Disease: Peripheral visual field loss
Peripheral visual field loss 		19 0 5 7.6E-02 0 0
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		50 0 7 7.4E-02 0 0
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		7 22 4 7.3E-02 1 1.3E-02
CUI: C4021563
Disease: Retinal nonattachment
Retinal nonattachment 		7 0 4 7.3E-02 0 0
CUI: C4511237
Disease: Butterfly-shaped pigmentary macular dystrophy
Butterfly-shaped pigmentary macular dystrophy 		7 0 4 7.3E-02 0 0
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		81 60 9 7.3E-02 1 8.5E-03
CUI: C1332969
Disease: Childhood Ganglioglioma
Childhood Ganglioglioma 		38 0 6 7.1E-02 0 0
CUI: C4024799
Disease: Granular macular appearance
Granular macular appearance 		8 0 4 7.1E-02 0 0
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change 		24 0 5 7.0E-02 0 0
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		9 6 4 7.0E-02 1 1.6E-02
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus 		25 0 5 6.9E-02 0 0
CUI: C0271215
Disease: Blindness, Legal
Blindness, Legal 		10 0 4 6.9E-02 0 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 29 6.9E-02 0 0
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		136 0 12 6.8E-02 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 34 28 6.7E-02 2 2.2E-02
CUI: C1859486
Disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 		12 0 4 6.7E-02 0 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		29 41 5 6.6E-02 1 1.0E-02
CUI: C1858080
Disease: Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Early Onset Severe 		14 0 4 6.5E-02 0 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		235 11 17 6.3E-02 1 1.4E-02
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		16 0 4 6.2E-02 0 0