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: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 365 0.39 53 0.39
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 95 358 0.27 5 3.2E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 338 0.26 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 338 0.26 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 54 271 0.25 10 8.9E-02
CUI: C0040822
Disease: Tremor
Tremor 		528 52 262 0.23 1 8.4E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 337 0.22 5 7.8E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 551 0.22 8 1.3E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 490 0.22 8 1.3E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 323 0.22 3 1.3E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 259 0.22 2 1.6E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 12 255 0.21 2 2.6E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 244 0.20 2 1.7E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 244 0.20 3 2.7E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 220 0.20 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 191 0.19 2 1.4E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 468 0.18 2 8.9E-03
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		539 0 217 0.18 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 97 195 0.17 3 1.9E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 285 0.17 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 251 0.17 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 237 0.17 2 1.1E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 64 188 0.17 2 1.5E-02
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		312 23 166 0.16 1 1.1E-02
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		299 0 163 0.16 0 0