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: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		30 0 7 8.3E-02 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 15 8 8.2E-02 1 2.6E-02
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 11 8.1E-02 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 13 8.1E-02 0 0
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs 		19 0 6 8.1E-02 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 10 8.1E-02 0 0
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		48 0 8 7.9E-02 0 0
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		171 50 17 7.9E-02 1 1.4E-02
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		35 0 7 7.9E-02 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 8 7.8E-02 0 0
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		118 0 13 7.8E-02 0 0
CUI: C1866012
Disease: Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs 		22 0 6 7.8E-02 0 0
CUI: C0560346
Disease: Difficulty running
Difficulty running 		38 3 7 7.6E-02 1 3.8E-02
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 0 7 7.5E-02 0 0
CUI: C0263661
Disease: Disorder of skeletal system
Disorder of skeletal system 		25 0 6 7.5E-02 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 8 8 7.5E-02 1 3.2E-02
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		83 0 10 7.5E-02 0 0
CUI: C1843477
Disease: Epidermolysis Bullosa Simplex Superficialis
Epidermolysis Bullosa Simplex Superficialis 		11 0 5 7.5E-02 0 0
CUI: C3267047
Disease: Autoimmune necrotizing myopathy
Autoimmune necrotizing myopathy 		11 0 5 7.5E-02 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 7 7.4E-02 0 0
CUI: C1456418
Disease: Absence of muscle
Absence of muscle 		12 0 5 7.4E-02 0 0
CUI: C1863843
Disease: Neuronal intranuclear inclusion disease
Neuronal intranuclear inclusion disease 		12 0 5 7.4E-02 0 0
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		27 0 6 7.3E-02 0 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		117 0 12 7.2E-02 0 0
CUI: C4021727
Disease: EMG: neuropathic changes
EMG: neuropathic changes 		28 0 6 7.2E-02 0 0