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: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 81 0.76 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 10 83 0.51 1 8.3E-02
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 5 83 0.38 1 0.14
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 81 0.36 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 83 0.36 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 74 0.36 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 81 0.33 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 40 0.31 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 60 0.31 0 0
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 82 0.30 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 33 0.30 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 82 0.28 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 82 0.26 0 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		41 0 26 0.25 0 0
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		42 0 26 0.25 0 0
CUI: C1836926
Disease: Bone spicule pigmentation of the retina
Bone spicule pigmentation of the retina 		24 0 21 0.23 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 0 83 0.21 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 82 0.20 1 2.7E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 82 0.19 0 0
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		83 0 27 0.19 0 0
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		85 0 27 0.19 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 47 0.18 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 0 24 0.16 0 0
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		81 60 23 0.16 1 1.6E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 541 85 0.16 1 1.8E-03