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: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		20 0 11 0.13 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 5 30 0.11 1 6.7E-02
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 227 30 0.11 2 8.5E-03
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		22 0 10 0.11 0 0
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change 		24 0 10 0.11 0 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		158 0 23 0.11 0 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		194 0 26 0.11 0 0
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		39 0 11 0.10 0 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		87 3 15 0.10 1 7.7E-02
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		49 0 11 9.6E-02 0 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		235 0 27 9.5E-02 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 21 9.4E-02 0 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		125 0 17 9.2E-02 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 11 8.9E-02 0 0
CUI: C0042798
Disease: Low Vision
Low Vision 		157 0 19 8.8E-02 0 0
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		63 0 11 8.5E-02 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 0 12 7.9E-02 0 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		400 0 35 7.9E-02 0 0
CUI: C0241688
Disease: Peripheral visual field loss
Peripheral visual field loss 		19 0 7 7.9E-02 0 0
CUI: C4025728
Disease: Increased neuronal autofluorescent lipopigment
Increased neuronal autofluorescent lipopigment 		8 0 6 7.6E-02 0 0
CUI: C0085636
Disease: Photophobia
Photophobia 		227 0 21 7.4E-02 0 0
CUI: C0456909
Disease: Blindness
Blindness 		393 34 32 7.3E-02 1 2.3E-02
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		101 0 12 7.2E-02 0 0
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		42 0 8 7.2E-02 0 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 15 7.2E-02 0 0