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: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		42 0 32 0.11 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 0 107 0.11 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 41 0.11 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 103 0.11 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 103 0.11 0 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		41 0 30 0.11 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 105 0.11 1 5.6E-03
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 31 0.11 0 0
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		81 0 33 0.10 0 0
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		714 0 92 0.10 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 0 32 9.9E-02 0 0
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		85 0 30 9.3E-02 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 42 9.0E-02 0 0
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		254 0 43 9.0E-02 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 29 8.6E-02 0 0
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		685 663 75 8.5E-02 6 8.1E-03
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		235 0 38 8.2E-02 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 27 8.1E-02 0 0
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		94 32 27 8.0E-02 9 8.5E-02
CUI: C1836926
Disease: Bone spicule pigmentation of the retina
Bone spicule pigmentation of the retina 		24 0 21 7.7E-02 0 0
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		26 0 21 7.7E-02 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 49 7.6E-02 0 0
CUI: C1867441
Disease: Pterygium Of Conjunctiva And Cornea
Pterygium Of Conjunctiva And Cornea 		169 0 31 7.6E-02 0 0
CUI: C4520843
Disease: Pterygium of eye
Pterygium of eye 		169 0 31 7.6E-02 0 0
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		30 0 21 7.6E-02 0 0