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: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 33 147 0.25 3 5.3E-03
CUI: C0456909
Disease: Blindness
Blindness 		393 34 171 0.22 5 8.8E-03
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 123 0.21 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 129 0.20 0 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 158 0.20 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 127 0.20 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 216 0.19 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 216 0.19 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 222 0.19 2 3.2E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 227 123 0.19 38 5.2E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 179 0.19 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 18 113 0.19 2 3.6E-03
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		714 56 192 0.18 6 1.0E-02
CUI: C0086543
Disease: Cataract
Cataract 		878 124 214 0.18 1 1.5E-03
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 0 194 0.17 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 157 0.17 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 7 111 0.17 1 1.8E-03
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 117 0.17 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 24 117 0.16 1 1.8E-03
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 107 0.16 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 3 85 0.16 1 1.8E-03
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 83 0.15 0 0
CUI: C0017601
Disease: Glaucoma
Glaucoma 		770 0 163 0.14 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 114 0.14 0 0
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		620 0 135 0.13 0 0