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 82 0.28 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 85 0.28 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 111 0.27 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 145 0.25 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 82 0.22 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 127 0.22 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 84 0.20 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 85 0.20 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 83 0.20 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 93 0.18 0 0
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 85 0.18 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 73 0.18 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 0 101 0.17 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 81 0.17 0 0
CUI: C0004144
Disease: Atelectasis
Atelectasis 		62 0 50 0.17 0 0
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		163 0 64 0.16 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 0 150 0.16 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 0 119 0.16 0 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		104 0 51 0.15 0 0
CUI: C1855672
Disease: Immotile cilia
Immotile cilia 		41 0 41 0.14 0 0
CUI: C4703436
Disease: Impaired nasal mucociliary clearance
Impaired nasal mucociliary clearance 		41 0 41 0.14 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 131 0.14 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 131 0.14 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 56 0.14 0 0
CUI: C0018520
Disease: Halitosis
Halitosis 		48 0 41 0.14 0 0