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 0 779 0.94 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 779 0.94 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 341 0.32 2 1.4E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 369 0.31 12 7.0E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 321 0.29 6 4.1E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 313 0.28 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 19 295 0.27 3 2.7E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		868 68 358 0.27 5 3.2E-02
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 255 0.26 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 352 0.24 20 3.1E-02
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 314 0.24 1 4.9E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 510 0.24 33 5.4E-02
CUI: C0086543
Disease: Cataract
Cataract 		878 124 312 0.22 3 1.4E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 323 0.22 7 2.8E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 534 0.22 1 4.0E-03
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 328 0.21 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 223 0.20 14 0.10
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 311 0.20 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 327 0.20 11 2.9E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 203 0.20 2 1.6E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 484 0.19 19 3.0E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		546 541 222 0.19 2 3.2E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 0 251 0.19 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 224 0.19 18 0.14
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 325 0.18 0 0