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: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 0 15 0.17 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 16 24 0.17 1 2.9E-02
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		17 108 10 0.16 2 1.6E-02
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		32 0 12 0.16 0 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		33 0 12 0.16 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 3 13 0.16 1 4.5E-02
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		20 0 10 0.16 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 11 0.15 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 17 0.15 0 0
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		21 0 10 0.15 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 43 37 0.15 1 1.6E-02
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		280 67 42 0.14 3 3.6E-02
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 21 0.14 0 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		130 0 23 0.14 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 13 0.14 0 0
CUI: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy 		10 0 8 0.14 0 0
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		68 20 15 0.14 1 2.6E-02
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		30 0 10 0.14 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 8 0.13 0 0
CUI: C1836767
Disease: Proximal lower limb amyotrophy
Proximal lower limb amyotrophy 		15 0 8 0.13 0 0
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		34 0 10 0.13 0 0
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		44 0 11 0.13 0 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		73 14 14 0.12 1 3.0E-02
CUI: C3808250
Disease: Reduced forced vital capacity
Reduced forced vital capacity 		10 0 7 0.12 0 0
CUI: C4022161
Disease: Increased endomysial connective tissue
Increased endomysial connective tissue 		10 0 7 0.12 0 0