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: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		83 109 40 0.32 15 9.7E-02
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		26 0 18 0.20 0 0
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		30 0 18 0.19 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 53 25 0.18 1 8.9E-03
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 10 35 0.17 1 1.4E-02
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		42 0 18 0.17 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 3 23 0.16 1 1.6E-02
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 33 35 0.15 1 1.1E-02
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 227 38 0.15 2 7.0E-03
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 5 36 0.14 1 1.6E-02
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 31 19 0.13 3 3.4E-02
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 29 0.13 0 0
CUI: C1858080
Disease: Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Early Onset Severe 		14 0 11 0.13 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 21 0.13 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 34 0.12 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 25 0.12 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 19 0.12 0 0
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		136 16 23 0.12 1 1.3E-02
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		39 2 12 0.11 1 1.6E-02
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		112 0 19 0.11 0 0
CUI: C1855685
Disease: Undetectable electroretinogram
Undetectable electroretinogram 		21 0 10 0.11 0 0
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		45 0 12 0.11 0 0
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		35 9 11 0.10 3 4.5E-02
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		14 0 9 0.10 0 0
CUI: C0022578
Disease: Keratoconus
Keratoconus 		269 0 33 0.10 0 0