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: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
779 0 779 1.00 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
833 0 779 0.94 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
568 0 334 0.33 0 0
CUI: C0038379
Disease: Strabismus
Strabismus
716 0 358 0.31 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
595 0 315 0.30 0 0
CUI: C0033377
Disease: Ptosis
Ptosis
607 0 310 0.29 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
539 0 288 0.28 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
422 0 253 0.27 0 0
CUI: C0004134
Disease: Ataxia
Ataxia
868 0 338 0.26 0 0
Sensorineural Hearing Loss (disorder)
783 0 309 0.25 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
967 0 338 0.24 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
1825 0 485 0.23 0 0
CUI: C0086543
Disease: Cataract
Cataract
878 0 306 0.23 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
955 0 313 0.22 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
2165 0 513 0.21 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
1064 0 321 0.21 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria
487 0 215 0.20 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
1010 0 302 0.20 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
407 0 197 0.20 0 0
CUI: C0349588
Disease: Short stature
Short stature
1127 0 314 0.20 0 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
546 0 216 0.19 0 0
CUI: C0456909
Disease: Blindness
Blindness
393 0 187 0.19 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
740 0 242 0.19 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
429 0 191 0.19 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
215 0 157 0.19 0 0