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: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 54 0.12 0 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 0 87 0.12 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 78 0.12 1 3.4E-03
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 15 73 0.12 1 1.6E-02
CUI: C0009806
Disease: Constipation
Constipation 		424 57 84 0.12 9 9.2E-02
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		319 23 73 0.11 3 4.3E-02
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 63 0.11 3 3.9E-02
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 52 0.11 0 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		265 34 67 0.11 2 2.4E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 96 0.11 3 3.1E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 83 0.11 2 1.2E-02
CUI: C0026848
Disease: Myopathy
Myopathy 		634 166 101 0.11 4 1.9E-02
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		48 5 43 0.11 2 3.8E-02
CUI: C0497327
Disease: Dementia
Dementia 		816 176 118 0.11 3 1.3E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 132 0.11 9 1.5E-02
CUI: C0008489
Disease: Chorea
Chorea 		168 0 54 0.11 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 16 57 0.11 2 3.1E-02
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 23 50 0.11 2 2.8E-02
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 46 0.11 0 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		213 0 57 0.10 0 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 83 0.10 10 9.1E-02
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 53 0.10 0 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		316 0 64 1.0E-01 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 122 1.0E-01 11 5.4E-02
CUI: C1836038
Disease: Poor head control
Poor head control 		162 0 50 1.0E-01 0 0