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: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 13 75 0.11 2 3.1E-02
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 64 0.11 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		422 0 89 0.11 0 0
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		133 16 60 0.11 2 2.9E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		457 64 89 0.10 1 8.5E-03
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		977 0 138 0.10 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 82 0.10 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 123 0.10 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 143 0.10 0 0
CUI: C0008489
Disease: Chorea
Chorea 		168 0 60 0.10 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 137 0.10 0 0
CUI: C0003467
Disease: Anxiety
Anxiety 		1048 0 140 0.10 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 147 0.10 3 8.7E-03
CUI: C0542476
Disease: Forgetful
Forgetful 		429 0 83 1.0E-01 0 0
CUI: C0497327
Disease: Dementia
Dementia 		816 176 118 1.0E-01 1 4.4E-03
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 14 57 9.9E-02 5 7.9E-02
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 25 73 9.9E-02 3 3.9E-02
CUI: C0018524
Disease: Hallucinations
Hallucinations 		178 0 60 9.9E-02 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 72 9.9E-02 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 78 9.8E-02 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 72 9.8E-02 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 0 236 9.8E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		424 57 81 9.8E-02 2 1.8E-02
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		189 0 60 9.7E-02 0 0
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		257 0 66 9.7E-02 0 0