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: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 105 0.15 0 0
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		98 0 61 0.14 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 102 0.14 0 0
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		714 56 135 0.14 3 3.4E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 65 0.13 3 3.7E-02
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		620 0 114 0.13 0 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		82 0 51 0.12 0 0
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		136 16 53 0.11 2 4.2E-02
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 53 0.11 0 0
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		83 109 45 0.10 1 7.0E-03
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 118 0.10 0 0
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		81 60 44 0.10 1 1.1E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 0 104 0.10 0 0
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		254 51 59 0.10 1 1.2E-02
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		86 53 43 9.9E-02 1 1.2E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		685 663 96 9.8E-02 2 2.9E-03
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		42 0 38 9.6E-02 0 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		241 7 54 9.3E-02 1 2.5E-02
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 6 43 9.2E-02 1 2.6E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 115 9.2E-02 1 1.6E-03
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 37 9.0E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 90 8.8E-02 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		112 0 40 8.6E-02 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 78 8.5E-02 0 0
CUI: C0027092
Disease: Myopia
Myopia 		490 0 68 8.3E-02 0 0