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: C0038379
Disease: Strabismus
Strabismus 		716 89 107 0.11 2 1.7E-02
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 0 67 0.11 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 121 0.11 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 59 0.11 0 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 32 57 0.11 1 1.5E-02
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 0 44 0.11 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 62 82 0.11 1 1.1E-02
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 54 0.11 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		311 0 66 0.10 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 47 0.10 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		216 0 56 0.10 0 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 47 0.10 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 46 0.10 0 0
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		41 0 39 0.10 0 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		52 0 40 0.10 0 0
CUI: C0026848
Disease: Myopathy
Myopathy 		634 0 93 0.10 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 75 0.10 3 4.6E-03
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		210 0 54 1.0E-01 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 149 1.0E-01 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 111 1.0E-01 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		136 0 47 9.9E-02 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 43 9.9E-02 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 78 9.8E-02 0 0
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		236 0 55 9.7E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 86 9.7E-02 2 2.4E-02