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: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy
46 0 9 9.7E-02 0 0
Creatine phosphokinase serum increased
228 0 25 9.7E-02 0 0
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
24 0 7 9.6E-02 0 0
Autosomal Dominant Myotubular Myopathy
13 0 6 9.5E-02 0 0
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1
13 0 6 9.5E-02 0 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content
14 0 6 9.4E-02 0 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait
50 4 9 9.3E-02 1 0.11
Fatigable weakness of swallowing muscles
39 0 8 9.2E-02 0 0
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
40 0 8 9.1E-02 0 0
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy
16 0 6 9.1E-02 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance
76 0 11 9.1E-02 0 0
Myopathy, Centronuclear, Autosomal Dominant
16 0 6 9.1E-02 0 0
CUI: C1839042
Disease: Upper motor neuron dysfunction
Upper motor neuron dysfunction
16 0 6 9.1E-02 0 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy
28 0 7 9.1E-02 0 0
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
17 108 6 9.0E-02 1 8.8E-03
CUI: C0234146
Disease: Absent reflex
Absent reflex
201 16 21 8.9E-02 1 4.8E-02
CUI: C0270790
Disease: Quadriparesis
Quadriparesis
42 0 8 8.9E-02 0 0
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy
18 0 6 8.8E-02 0 0
Type 1 fibers relatively smaller than type 2 fibers
6 0 5 8.8E-02 0 0
CUI: C0221166
Disease: Paraparesis
Paraparesis
31 0 7 8.7E-02 0 0
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle
118 0 14 8.7E-02 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis
44 0 8 8.7E-02 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls
94 0 12 8.7E-02 0 0
CUI: C4021640
Disease: Intestinal hypoplasia
Intestinal hypoplasia
7 0 5 8.6E-02 0 0
CUI: C0521532
Disease: Diaphragmatic paresis
Diaphragmatic paresis
8 0 5 8.5E-02 0 0