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 0 132 0.14 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 132 0.14 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 0 55 0.14 0 0
CUI: C0040822
Disease: Tremor
Tremor 		528 0 99 0.13 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		172 0 57 0.13 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 133 0.13 0 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 0 88 0.13 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 90 0.13 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 79 0.13 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 80 0.13 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 0 71 0.13 0 0
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		549 0 95 0.12 0 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		70 0 42 0.12 0 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		454 0 84 0.12 0 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 48 0.12 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		321 0 69 0.12 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 42 0.12 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 138 0.12 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 68 0.12 0 0
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		208 0 56 0.12 0 0
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		41 0 38 0.12 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 67 0.12 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 38 0.12 0 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		125 0 45 0.11 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 44 0.11 0 0