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: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 81 0.36 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 81 0.34 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 86 0.30 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 96 0.29 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 86 0.27 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 149 0.23 3 5.0E-02
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 83 0.23 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 71 0.23 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 83 0.22 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 0 109 0.22 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 19 135 0.22 2 6.9E-02
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 86 0.22 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 0 129 0.20 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 87 0.20 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 84 0.20 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 153 0.18 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 153 0.18 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 155 0.17 1 9.4E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 92 0.17 0 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		169 0 56 0.17 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 143 0.17 1 8.2E-03
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		87 0 43 0.17 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 91 0.16 0 0
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		46 0 36 0.16 0 0
CUI: C0003578
Disease: Apnea
Apnea 		262 0 65 0.16 0 0