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: C0456909
Disease: Blindness
Blindness 		393 34 44 0.10 1 1.1E-02
CUI: C3540662
Disease: Congenital Amaurosis of Retinal Origin
Congenital Amaurosis of Retinal Origin 		8 0 8 9.9E-02 0 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 42 9.6E-02 0 0
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change 		24 1 9 9.4E-02 1 1.7E-02
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation 		25 0 9 9.3E-02 0 0
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		26 0 9 9.2E-02 0 0
CUI: C0009398
Disease: Color vision defect
Color vision defect 		94 0 14 8.7E-02 0 0
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		32 0 9 8.7E-02 0 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		235 0 25 8.6E-02 0 0
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		254 51 26 8.4E-02 2 1.8E-02
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		48 0 10 8.4E-02 0 0
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		25 0 8 8.2E-02 0 0
CUI: C1848172
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		26 0 8 8.1E-02 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 0 24 8.1E-02 0 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		41 0 9 8.0E-02 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		180 0 19 7.9E-02 0 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		43 0 9 7.8E-02 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 10 7.8E-02 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 23 7.8E-02 0 0
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		16 0 7 7.8E-02 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 21 7.6E-02 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 541 44 7.5E-02 4 6.7E-03
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		20 0 7 7.4E-02 0 0
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		49 24 9 7.4E-02 3 3.7E-02
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		6 22 6 7.4E-02 3 3.8E-02