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: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 53 28 0.26 4 5.0E-02
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		25 2 12 0.20 1 3.1E-02
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 23 0.19 0 0
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		52 59 16 0.19 2 2.3E-02
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		39 0 13 0.18 0 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		41 0 13 0.17 0 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		43 0 13 0.17 0 0
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		16 9 9 0.16 1 2.6E-02
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 30 0.16 0 0
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		39 0 12 0.16 0 0
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		26 63 10 0.16 1 1.1E-02
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia 		19 0 9 0.16 0 0
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		16 0 8 0.14 0 0
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus 		25 0 9 0.14 0 0
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy 		25 4 9 0.14 2 6.1E-02
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		9 6 7 0.14 1 2.8E-02
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		20 0 8 0.13 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 31 0.13 0 0
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		32 0 9 0.13 0 0
CUI: C3665342
Disease: Progressive Cone Dystrophy
Progressive Cone Dystrophy 		7 2 6 0.12 1 3.1E-02
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		45 0 10 0.12 0 0
CUI: C4024799
Disease: Granular macular appearance
Granular macular appearance 		8 0 6 0.12 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 10 22 0.12 2 5.1E-02
CUI: C0155015
Disease: Color Blindness, Red
Color Blindness, Red 		9 0 6 0.12 0 0
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		10 5 6 0.12 1 2.9E-02