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: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		235 11 128 0.26 3 7.1E-02
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 107 0.24 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 119 0.24 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 33 109 0.23 1 1.5E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 541 171 0.22 5 8.8E-03
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 109 0.22 0 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 14 141 0.22 2 4.3E-02
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 83 0.21 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 5 105 0.21 2 5.4E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 160 0.20 4 4.9E-02
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 82 0.20 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 101 0.19 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 227 98 0.19 3 1.2E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 187 0.19 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 187 0.19 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 146 0.19 0 0
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 103 0.18 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 190 0.18 3 2.4E-02
CUI: C0086543
Disease: Cataract
Cataract 		878 124 194 0.18 1 6.4E-03
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 101 0.17 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 18 81 0.17 1 2.0E-02
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 167 0.17 2 1.4E-02
CUI: C0017601
Disease: Glaucoma
Glaucoma 		770 198 163 0.16 1 4.3E-03
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 95 0.16 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 108 0.16 0 0