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: C0231712
Disease: Waddling gait
Waddling gait 		113 8 45 0.20 1 4.5E-02
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 38 0.19 0 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 0 71 0.18 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 30 0.16 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 0 52 0.15 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 16 35 0.15 3 0.11
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		92 0 32 0.15 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 25 0.14 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 27 0.14 0 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		117 5 33 0.14 1 5.3E-02
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 32 0.13 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 28 0.13 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 15 42 0.12 1 3.4E-02
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 27 0.12 0 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 35 0.12 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 104 0.11 6 4.2E-02
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 0 37 0.11 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 43 0.11 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 0 21 0.11 0 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		55 5 21 0.11 2 0.11
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 6 24 0.11 2 0.11
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 12 33 0.11 6 0.29
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 18 0.11 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 42 0.10 0 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		149 0 29 0.10 0 0