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: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy 		25 0 15 0.29 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 26 0.25 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 25 0.21 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 35 0.21 0 0
CUI: C1836926
Disease: Bone spicule pigmentation of the retina
Bone spicule pigmentation of the retina 		24 0 11 0.20 0 0
CUI: C4703439
Disease: Abnormality of fundus pigmentation
Abnormality of fundus pigmentation 		14 0 9 0.20 0 0
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		48 0 13 0.17 0 0
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		42 0 12 0.17 0 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		43 0 12 0.17 0 0
CUI: C4024799
Disease: Granular macular appearance
Granular macular appearance 		8 0 7 0.17 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 17 0.16 0 0
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		39 0 11 0.16 0 0
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus 		25 0 9 0.16 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 36 0.16 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 28 0.15 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 0 17 0.15 0 0
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia 		19 0 8 0.15 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 34 0.15 0 0
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		52 0 12 0.15 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 29 0.14 0 0
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		16 0 7 0.14 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 12 0.14 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 17 0.14 0 0
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		25 0 8 0.14 0 0
CUI: C3151111
Disease: Abnormal light- and dark-adapted electroretinogram
Abnormal light- and dark-adapted electroretinogram 		9 0 6 0.14 0 0