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: C0028738
Disease: Nystagmus
Nystagmus 		833 95 124 0.13 6 1.9E-02
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		147 0 43 0.13 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 43 0.13 0 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 60 0.13 0 0
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		254 51 53 0.13 6 2.2E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 88 0.13 2 7.2E-03
CUI: C0086543
Disease: Cataract
Cataract 		878 124 122 0.13 3 8.6E-03
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 33 0.12 0 0
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		136 16 38 0.12 1 4.1E-03
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 46 0.12 0 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		57 0 29 0.12 0 0
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		714 56 96 0.11 6 2.2E-02
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		77 11 30 0.11 2 8.5E-03
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		48 31 26 0.11 4 1.6E-02
CUI: C0017601
Disease: Glaucoma
Glaucoma 		770 0 96 0.11 0 0
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		39 0 25 0.11 0 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 49 0.11 0 0
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		52 59 26 0.11 11 4.0E-02
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		68 74 27 0.10 4 1.3E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 59 0.10 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 32 9.9E-02 0 0
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		41 0 23 9.7E-02 0 0
CUI: C0042798
Disease: Low Vision
Low Vision 		157 51 33 9.6E-02 6 2.2E-02
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		45 24 23 9.5E-02 7 2.9E-02
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 6 29 9.5E-02 1 4.3E-03