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 44 0.18 0 0
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		83 109 29 0.15 2 1.6E-02
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 18 40 0.15 1 3.0E-02
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 45 0.15 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 33 42 0.15 2 4.3E-02
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 28 0.14 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 26 0.14 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 27 0.13 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 41 0.13 0 0
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		42 0 20 0.13 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 541 74 0.12 7 1.3E-02
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 227 38 0.12 1 4.1E-03
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		81 60 23 0.12 1 1.3E-02
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 42 0.12 0 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 55 0.11 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 34 53 0.11 2 4.2E-02
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 53 22 0.11 2 3.0E-02
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 26 0.10 0 0
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		26 0 14 9.5E-02 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 32 9.4E-02 0 0
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		39 0 15 9.4E-02 0 0
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		30 0 14 9.2E-02 0 0
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		45 0 15 9.0E-02 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 29 9.0E-02 0 0
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		85 65 18 8.9E-02 4 5.2E-02