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: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 115 0.43 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 106 0.41 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 94 0.41 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 60 0.31 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 91 0.30 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 56 0.26 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 1 44 0.24 1 5.6E-02
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 71 0.23 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 227 71 0.22 1 4.1E-03
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 0 44 0.21 0 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 98 0.21 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 53 0.20 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 42 0.20 0 0
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		42 0 34 0.19 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 541 113 0.19 2 3.6E-03
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 40 0.18 0 0
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 65 0.17 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 59 0.17 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 34 81 0.17 1 2.0E-02
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 85 0.17 0 0
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		48 0 30 0.16 0 0
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		83 0 34 0.16 0 0
CUI: C0018979
Disease: Hemianopsia
Hemianopsia 		41 0 28 0.15 0 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		41 0 28 0.15 0 0
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		136 16 40 0.15 1 3.0E-02