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 0 104 0.37 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 117 0.36 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 83 0.36 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 82 0.33 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 91 0.30 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 90 0.27 0 0
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 98 0.25 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 0 119 0.24 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 83 0.23 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 85 0.22 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 97 0.22 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 65 0.21 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 0 53 0.20 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 85 0.20 0 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 102 0.19 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 70 0.19 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 45 0.17 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 541 111 0.17 1 1.8E-03
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 106 0.16 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 89 0.16 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 89 0.16 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 86 0.16 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 107 0.16 1 1.8E-02
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		41 0 36 0.16 0 0
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 43 0.15 0 0