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: C4073085
Disease: Foveal photoreceptor outer segment loss on macular OCT
Foveal photoreceptor outer segment loss on macular OCT 		3 0 3 0.75 0 0
CUI: C1852548
Disease: Absent retinal pigment epithelium
Absent retinal pigment epithelium 		4 0 3 0.60 0 0
CUI: C3275758
Disease: Choriocapillaris atrophy
Choriocapillaris atrophy 		5 0 3 0.50 0 0
CUI: C4073099
Disease: Perifoveal ring of hyperautofluorescence
Perifoveal ring of hyperautofluorescence 		5 0 3 0.50 0 0
CUI: C2733564
Disease: Full thickness hole of macula lutea
Full thickness hole of macula lutea 		7 0 3 0.38 0 0
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		10 0 3 0.27 0 0
CUI: C0344297
Disease: Choroidal sclerosis
Choroidal sclerosis 		1 0 1 0.25 0 0
CUI: C1833564
Disease: CONE-ROD DYSTROPHY 1 (disorder)
CONE-ROD DYSTROPHY 1 (disorder) 		1 0 1 0.25 0 0
CUI: C1867326
Disease: RETINAL CONE DYSTROPHY 1
RETINAL CONE DYSTROPHY 1 		6 0 2 0.25 0 0
CUI: C2673931
Disease: Hyperthreoninuria
Hyperthreoninuria 		1 0 1 0.25 0 0
CUI: C4013102
Disease: LEBER CONGENITAL AMAUROSIS 18
LEBER CONGENITAL AMAUROSIS 18 		1 0 1 0.25 0 0
CUI: C4024776
Disease: Reticular retinal dystrophy
Reticular retinal dystrophy 		1 0 1 0.25 0 0
CUI: C4072973
Disease: Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
Reduced amplitude of dark-adapted bright flash electroretinogram a-wave 		1 0 1 0.25 0 0
CUI: C4476614
Disease: Beaten bronze macular sheen
Beaten bronze macular sheen 		1 0 1 0.25 0 0
CUI: C4551884
Disease: Choroidal Dystrophy, Central Areolar 1
Choroidal Dystrophy, Central Areolar 1 		1 0 1 0.25 0 0
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		1 0 1 0.25 0 0
CUI: C0233593
Disease: Eye poking
Eye poking 		2 0 1 0.20 0 0
CUI: C0730366
Disease: Rod dystrophy
Rod dystrophy 		2 0 1 0.20 0 0
CUI: C1848861
Disease: Hyperthreoninemia
Hyperthreoninemia 		2 0 1 0.20 0 0
CUI: C2675552
Disease: Retinitis Pigmentosa 7, Digenic
Retinitis Pigmentosa 7, Digenic 		2 0 1 0.20 0 0
CUI: C2751290
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		2 0 1 0.20 0 0
CUI: C3281045
Disease: CONE-ROD DYSTROPHY 16
CONE-ROD DYSTROPHY 16 		2 0 1 0.20 0 0
CUI: C3281046
Disease: RETINITIS PIGMENTOSA 64
RETINITIS PIGMENTOSA 64 		2 0 1 0.20 0 0
CUI: C4049066
Disease: Retinal dystrophy with early macular involvement
Retinal dystrophy with early macular involvement 		2 0 1 0.20 0 0
CUI: C4288779
Disease: Major Congenital Anomaly
Major Congenital Anomaly 		2 0 1 0.20 0 0