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: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 119 0.28 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 100 0.28 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 82 0.26 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 83 0.26 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 96 0.23 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 91 0.22 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 97 0.22 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 87 0.20 0 0
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 91 0.19 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 171 0.19 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 171 0.19 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 93 0.18 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 173 0.18 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 107 0.17 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 102 0.17 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 117 0.16 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 121 0.16 0 0
CUI: C0086543
Disease: Cataract
Cataract 		878 0 163 0.16 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 541 117 0.16 1 1.8E-03
CUI: C0456909
Disease: Blindness
Blindness 		393 0 95 0.16 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 0 145 0.15 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 18 62 0.15 1 2.4E-02
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		178 18 59 0.14 1 2.4E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 0 125 0.14 0 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 85 0.14 0 0