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: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		41 0 12 0.11 0 0
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 17 0.11 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 34 45 0.10 1 7.0E-03
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 45 0.10 0 0
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		49 0 12 1.0E-01 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 29 1.0E-01 0 0
CUI: C3540662
Disease: Congenital Amaurosis of Retinal Origin
Congenital Amaurosis of Retinal Origin 		8 0 8 9.6E-02 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		180 0 23 9.6E-02 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 26 9.5E-02 0 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		125 0 18 9.5E-02 0 0
CUI: C1855685
Disease: Undetectable electroretinogram
Undetectable electroretinogram 		21 0 9 9.5E-02 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 541 54 9.4E-02 12 1.9E-02
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change 		24 0 9 9.2E-02 0 0
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		85 0 14 9.1E-02 0 0
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy 		25 0 9 9.1E-02 0 0
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation 		25 0 9 9.1E-02 0 0
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		39 0 10 8.9E-02 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 26 8.7E-02 0 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		235 0 25 8.5E-02 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 11 8.5E-02 0 0
CUI: C0042798
Disease: Low Vision
Low Vision 		157 0 18 8.1E-02 0 0
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		254 51 25 8.0E-02 2 1.3E-02
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		25 0 8 8.0E-02 0 0
CUI: C1848172
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		26 0 8 7.9E-02 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 28 7.8E-02 0 0