Source: INFERRED ×
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 0.97 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 779 0.97 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		508 34 332 0.34 1 8.6E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 363 0.32 12 7.7E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		574 49 316 0.30 6 4.8E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		558 0 309 0.29 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1259 6 460 0.29 1 1.1E-02
CUI: C0086543
Disease: Cataract
Cataract 		561 13 297 0.28 3 3.2E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		536 19 288 0.27 3 3.0E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		609 17 301 0.27 4 4.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 480 0.27 33 5.9E-02
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		622 44 300 0.27 1 7.9E-03
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		420 0 255 0.26 0 0
CUI: C0036572
Disease: Seizures
Seizures 		1292 417 430 0.26 19 4.0E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 349 0.25 20 3.1E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 309 0.23 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 320 0.22 7 2.9E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		470 42 217 0.21 14 0.13
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1039 0 313 0.20 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 307 0.20 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 323 0.20 11 3.0E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 202 0.20 2 1.7E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		551 0 225 0.20 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		734 0 246 0.19 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		491 39 203 0.19 18 0.17