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: C0151888
Disease: Hyporeflexia
Hyporeflexia 		312 0 104 0.24 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 13 67 0.21 1 2.4E-02
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 67 0.21 0 0
CUI: C1854494
Disease: Slow progression
Slow progression 		165 0 61 0.19 0 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		213 0 68 0.18 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 16 66 0.18 2 4.5E-02
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 50 0.17 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 40 0.17 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 12 44 0.17 1 2.4E-02
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 8 49 0.17 1 2.7E-02
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 16 49 0.17 1 2.2E-02
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		41 0 37 0.16 0 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		143 14 50 0.16 1 2.3E-02
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		117 0 46 0.16 0 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		106 0 43 0.15 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 38 0.15 0 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		319 0 69 0.15 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		595 57 100 0.14 2 2.4E-02
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 3 32 0.14 1 3.1E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		607 0 97 0.13 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 47 0.13 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 70 0.13 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 43 52 0.13 4 5.8E-02
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		125 0 40 0.13 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 40 0.13 0 0