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: C0947912
Disease: Myasthenias
Myasthenias 		41 0 12 0.15 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 12 0.15 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 13 0.15 0 0
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		19 0 9 0.15 0 0
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		57 0 14 0.15 0 0
CUI: C0234860
Disease: Weak cry
Weak cry 		42 0 12 0.15 0 0
CUI: C0575157
Disease: Deformity of spine
Deformity of spine 		58 0 14 0.15 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 21 0.15 0 0
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		51 5 13 0.15 2 0.14
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		59 0 14 0.15 0 0
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		30 0 10 0.14 0 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		213 0 33 0.14 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		201 16 30 0.14 2 8.0E-02
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 7 12 0.14 1 5.9E-02
CUI: C4021727
Disease: EMG: neuropathic changes
EMG: neuropathic changes 		28 5 9 0.13 1 6.7E-02
CUI: C0560346
Disease: Difficulty running
Difficulty running 		38 0 10 0.13 0 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		224 30 31 0.13 3 7.9E-02
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 8 18 0.12 1 5.6E-02
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		50 0 11 0.12 0 0
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		64 0 12 0.12 0 0
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		74 15 13 0.12 2 8.3E-02
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 16 17 0.12 1 3.8E-02
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs 		19 0 7 0.11 0 0
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		39 0 9 0.11 0 0
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		30 4 8 0.11 1 7.1E-02