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: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 26 0.28 0 0
CUI: C4021728
Disease: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation 		24 0 21 0.27 0 0
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		57 0 27 0.26 0 0
CUI: C0947912
Disease: Myasthenias
Myasthenias 		41 0 23 0.25 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 36 0.24 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 23 0.23 0 0
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		19 0 17 0.22 0 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		61 0 23 0.21 0 0
CUI: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		15 0 15 0.20 0 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 0 19 0.20 0 0
CUI: C0012569
Disease: Diplopia
Diplopia 		75 5 25 0.20 1 0.11
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 31 0.20 0 0
CUI: C0010520
Disease: Cyanosis
Cyanosis 		54 0 21 0.20 0 0
CUI: C0234860
Disease: Weak cry
Weak cry 		42 0 19 0.20 0 0
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		18 0 15 0.19 0 0
CUI: C0751885
Disease: Myasthenic Syndromes, Congenital, Slow Channel
Myasthenic Syndromes, Congenital, Slow Channel 		18 0 15 0.19 0 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 16 0.18 0 0
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		13 0 13 0.18 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 17 0.17 0 0
CUI: C2230441
Disease: Triceps weakness
Triceps weakness 		18 0 13 0.16 0 0
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		41 0 16 0.16 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 26 0.16 0 0
CUI: C0085619
Disease: Orthopnea
Orthopnea 		13 0 12 0.16 0 0
CUI: C4022584
Disease: Fatigable weakness of neck muscles
Fatigable weakness of neck muscles 		13 0 12 0.16 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 23 0.16 0 0