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 0 110 0.45 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 106 0.41 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 118 0.41 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 74 0.36 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 72 0.32 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 53 60 0.27 23 0.37
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 90 0.27 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 86 0.27 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 227 86 0.26 4 1.6E-02
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 86 0.25 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 541 147 0.25 3 5.3E-03
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 47 0.23 0 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 14 111 0.23 1 2.2E-02
CUI: C0456909
Disease: Blindness
Blindness 		393 34 109 0.23 1 1.5E-02
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 91 0.22 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 49 0.22 0 0
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 81 0.21 0 0
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		42 0 39 0.20 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 94 0.19 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 119 0.19 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 150 0.18 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 150 0.18 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 73 0.18 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 109 0.17 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 150 0.17 0 0