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 20 0.16 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 27 0.15 0 0
CUI: C0024003
Disease: Lordosis
Lordosis 		160 0 32 0.15 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 0 17 0.13 0 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 0 43 0.12 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 17 0.11 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 14 0.11 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 6 18 0.11 1 7.7E-02
CUI: C0560346
Disease: Difficulty running
Difficulty running 		38 0 13 0.11 0 0
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		151 0 24 0.11 0 0
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		41 0 13 0.11 0 0
CUI: C0265673
Disease: Congenital kyphosis
Congenital kyphosis 		54 0 14 0.11 0 0
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		54 0 14 0.11 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 13 0.11 0 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		149 0 23 0.11 0 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		66 7 15 0.10 3 0.25
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		155 17 23 0.10 1 4.2E-02
CUI: C0544755
Disease: Genu varum
Genu varum 		60 0 14 0.10 0 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 0 17 0.10 0 0
CUI: C0004604
Disease: Back Pain
Back Pain 		110 0 18 9.8E-02 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 0 18 9.7E-02 0 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		33 0 11 9.6E-02 0 0
CUI: C0575157
Disease: Deformity of spine
Deformity of spine 		58 0 13 9.5E-02 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 16 9.4E-02 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 0 27 9.3E-02 0 0