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: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 309 0.25 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 309 0.25 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 314 0.24 1 4.9E-03
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 245 0.22 4 2.5E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 270 0.22 21 4.9E-02
CUI: C0086543
Disease: Cataract
Cataract 		878 124 280 0.20 1 4.3E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 217 0.19 2 1.2E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 270 0.18 3 4.4E-03
CUI: C0033377
Disease: Ptosis
Ptosis 		607 12 214 0.18 1 8.2E-03
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 0 186 0.18 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 179 0.17 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 0 194 0.17 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 237 0.17 2 1.1E-02
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 12 143 0.17 1 8.2E-03
CUI: C0456909
Disease: Blindness
Blindness 		393 34 167 0.17 2 1.4E-02
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 150 0.16 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 245 0.16 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 258 0.16 5 1.3E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 19 178 0.16 1 7.8E-03
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		305 0 145 0.15 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 196 0.15 2 1.0E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 267 0.15 1 5.3E-03
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 130 0.15 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 383 0.15 2 7.5E-03
CUI: C0017601
Disease: Glaucoma
Glaucoma 		770 0 198 0.15 0 0