Source: CLINVAR ×
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: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		13 16 8 0.19 9 0.13
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		21 48 8 0.16 4 3.7E-02
CUI: C0234182
Disease: Gowers sign
Gowers sign 		7 8 6 0.16 3 4.4E-02
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		23 42 8 0.15 3 2.9E-02
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		12 14 6 0.14 4 5.5E-02
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		15 15 6 0.13 3 4.0E-02
CUI: C0231712
Disease: Waddling gait
Waddling gait 		8 8 5 0.12 2 2.9E-02
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		11 0 5 0.12 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		11 16 5 0.12 4 5.3E-02
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		11 12 5 0.12 2 2.7E-02
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		4 12 4 0.11 1 1.4E-02
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		4 5 4 0.11 4 6.2E-02
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		27 45 6 0.10 3 2.9E-02
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		6 45 4 0.10 3 2.9E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 59 7 0.10 5 4.3E-02
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		7 7 4 1.0E-01 1 1.4E-02
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		7 8 4 1.0E-01 3 4.4E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		30 42 6 9.8E-02 4 4.0E-02
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		10 11 4 9.3E-02 1 1.4E-02
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		10 14 4 9.3E-02 2 2.7E-02
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		12 15 4 8.9E-02 3 4.0E-02
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		13 16 4 8.7E-02 1 1.3E-02
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		3 0 3 8.1E-02 0 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		3 4 3 8.1E-02 2 3.1E-02
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		3 3 3 8.1E-02 3 4.8E-02