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: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 0 26 0.25 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 40 0.25 0 0
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		26 0 13 0.24 0 0
CUI: C1836926
Disease: Bone spicule pigmentation of the retina
Bone spicule pigmentation of the retina 		24 0 12 0.22 0 0
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		30 0 13 0.22 0 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 25 0.21 0 0
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		83 0 21 0.20 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 39 0.20 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 34 0.19 0 0
CUI: C0036454
Disease: Scotoma
Scotoma 		21 0 10 0.19 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 0 20 0.19 0 0
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		35 0 12 0.18 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 19 0.18 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 15 0.18 0 0
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		81 0 18 0.17 0 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		41 0 12 0.17 0 0
CUI: C1855685
Disease: Undetectable electroretinogram
Undetectable electroretinogram 		21 0 9 0.17 0 0
CUI: C1858080
Disease: Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Early Onset Severe 		14 0 8 0.17 0 0
CUI: C3540662
Disease: Congenital Amaurosis of Retinal Origin
Congenital Amaurosis of Retinal Origin 		8 0 7 0.16 0 0
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		68 0 14 0.15 0 0
CUI: C0154920
Disease: Pigmentary iris degeneration
Pigmentary iris degeneration 		37 0 10 0.14 0 0
CUI: C4023018
Disease: Subcortical cerebral atrophy
Subcortical cerebral atrophy 		22 0 8 0.14 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 32 0.14 0 0
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		23 0 8 0.14 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 31 0.13 0 0