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 91 0.27 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 33 86 0.26 4 1.6E-02
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 77 0.26 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 18 71 0.22 1 4.1E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 541 123 0.19 38 5.2E-02
CUI: C0456909
Disease: Blindness
Blindness 		393 34 98 0.19 3 1.2E-02
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 31 48 0.19 5 2.0E-02
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		83 109 48 0.19 7 2.1E-02
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 98 0.19 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 70 0.19 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 71 0.18 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 47 0.18 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 53 45 0.17 12 4.5E-02
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 46 0.17 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 64 0.16 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 84 0.15 0 0
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		81 60 38 0.15 2 7.0E-03
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 61 0.14 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 75 0.14 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 119 0.14 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 119 0.14 0 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		235 11 54 0.14 1 4.2E-03
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		42 0 31 0.13 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 37 0.13 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 44 0.13 0 0