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: C1858080
Disease: Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Early Onset Severe 		14 0 11 0.12 0 0
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		26 0 12 0.12 0 0
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		30 0 12 0.12 0 0
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		25 0 11 0.11 0 0
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		136 16 22 0.11 2 3.0E-02
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation 		25 0 11 0.11 0 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 14 48 0.11 1 1.5E-02
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		49 24 13 0.11 1 1.3E-02
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia 		19 0 10 0.11 0 0
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		20 0 10 0.10 0 0
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		23 317 10 0.10 9 2.5E-02
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		35 9 11 1.0E-01 1 1.6E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 541 57 9.9E-02 11 1.9E-02
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 32 9.9E-02 0 0
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus 		25 0 10 9.9E-02 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 34 43 9.9E-02 1 1.2E-02
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		16 0 9 9.7E-02 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 44 9.5E-02 0 0
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		9 0 8 9.2E-02 0 0
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 20 9.0E-02 1 9.7E-03
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change 		24 0 9 8.9E-02 0 0
CUI: C1836926
Disease: Bone spicule pigmentation of the retina
Bone spicule pigmentation of the retina 		24 0 9 8.9E-02 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 24 8.6E-02 0 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		29 41 9 8.5E-02 1 1.1E-02
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 14 8.5E-02 0 0