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: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 37 0.19 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 26 0.19 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 43 54 0.18 3 3.9E-02
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		280 67 62 0.18 4 4.0E-02
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 0 26 0.18 0 0
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		54 20 25 0.17 1 1.8E-02
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 7 24 0.17 1 2.3E-02
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 8 32 0.16 2 4.7E-02
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 3 26 0.16 1 2.6E-02
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 11 30 0.15 1 2.1E-02
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		171 50 37 0.15 1 1.2E-02
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 21 0.14 0 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		28 2 18 0.14 1 2.6E-02
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		35 0 18 0.13 0 0
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		20 3 16 0.13 1 2.6E-02
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		29 0 17 0.13 0 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		32 0 17 0.13 0 0
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy 		17 0 15 0.12 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 18 0.12 0 0
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		30 0 15 0.11 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 16 0.11 0 0
CUI: C0030552
Disease: Paresis
Paresis 		216 0 32 0.11 0 0
CUI: C0234958
Disease: Muscle degeneration
Muscle degeneration 		70 3 18 0.11 1 2.6E-02
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 0 15 0.11 0 0
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		19 150 13 0.10 2 1.1E-02