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: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 33 60 0.27 23 0.37
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		48 31 28 0.26 4 5.0E-02
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 33 0.22 0 0
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		254 51 62 0.22 24 0.30
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 44 0.21 0 0
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		83 109 29 0.21 3 1.9E-02
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 53 0.20 0 0
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		52 59 23 0.20 7 6.7E-02
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 40 0.20 0 0
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		42 0 20 0.19 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 47 0.19 0 0
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		81 60 25 0.18 1 8.9E-03
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 31 25 0.17 2 2.4E-02
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 227 45 0.17 12 4.5E-02
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 24 0.16 0 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		41 0 17 0.15 0 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		43 0 17 0.15 0 0
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		39 0 16 0.15 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 23 0.14 0 0
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		45 24 16 0.14 3 4.1E-02
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		39 10 15 0.14 2 3.3E-02
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy 		25 4 13 0.13 1 1.8E-02
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		26 63 13 0.13 2 1.8E-02
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 16 0.13 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 26 0.13 0 0