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: C4024799
Disease: Granular macular appearance
Granular macular appearance 		8 0 8 0.42 0 0
CUI: C0155018
Disease: Color Blindness, Acquired
Color Blindness, Acquired 		5 0 5 0.26 0 0
CUI: C0239777
Disease: Color Blindness, Green
Color Blindness, Green 		5 0 5 0.26 0 0
CUI: C0751042
Disease: Color Blindness, Inherited
Color Blindness, Inherited 		5 0 5 0.26 0 0
CUI: C0751043
Disease: Monochromatopsia
Monochromatopsia 		5 0 5 0.26 0 0
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		25 0 9 0.26 0 0
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy 		25 0 9 0.26 0 0
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		16 0 7 0.25 0 0
CUI: C0242225
Disease: Color blindness
Color blindness 		33 0 10 0.24 0 0
CUI: C3665342
Disease: Progressive Cone Dystrophy
Progressive Cone Dystrophy 		7 0 5 0.24 0 0
CUI: C0155015
Disease: Color Blindness, Red
Color Blindness, Red 		9 0 5 0.22 0 0
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		9 0 5 0.22 0 0
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		26 0 8 0.22 0 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		43 0 11 0.22 0 0
CUI: C4073099
Disease: Perifoveal ring of hyperautofluorescence
Perifoveal ring of hyperautofluorescence 		5 0 4 0.20 0 0
CUI: C0155016
Disease: Color Blindness, Red-Green
Color Blindness, Red-Green 		24 0 7 0.19 0 0
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		25 0 7 0.19 0 0
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus 		25 0 7 0.19 0 0
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		25 0 7 0.19 0 0
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		20 0 6 0.18 0 0
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		16 0 5 0.17 0 0
CUI: C4073085
Disease: Foveal photoreceptor outer segment loss on macular OCT
Foveal photoreceptor outer segment loss on macular OCT 		3 0 3 0.16 0 0
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		48 0 9 0.16 0 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		41 0 8 0.15 0 0
CUI: C1852548
Disease: Absent retinal pigment epithelium
Absent retinal pigment epithelium 		4 0 3 0.15 0 0