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: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 10 115 0.45 1 7.1E-02
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 115 0.43 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 118 0.41 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 3 83 0.38 1 0.14
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 117 0.36 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 82 0.35 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 96 0.29 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 91 0.27 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 93 0.26 0 0
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 99 0.26 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 115 0.23 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 96 0.23 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 118 0.22 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 139 0.22 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 47 0.21 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 34 105 0.21 2 5.4E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 0 127 0.20 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 83 0.20 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 48 0.19 0 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 99 0.19 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 101 0.19 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 157 0.19 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 157 0.19 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 0 47 0.19 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 158 0.18 2 2.0E-02