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: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 4 12 0.28 1 0.20
CUI: C0240679
Disease: Pelvic girdle muscle atrophy
Pelvic girdle muscle atrophy 		4 0 4 0.25 0 0
CUI: C4024608
Disease: Necrotizing myopathy
Necrotizing myopathy 		8 0 4 0.20 0 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		28 0 7 0.19 0 0
CUI: C4531255
Disease: Internally nucleated skeletal muscle fibers
Internally nucleated skeletal muscle fibers 		3 0 3 0.19 0 0
CUI: C1866021
Disease: Increased connective tissue
Increased connective tissue 		16 0 5 0.19 0 0
CUI: C4021082
Disease: Fatty replacement of skeletal muscle
Fatty replacement of skeletal muscle 		17 0 5 0.18 0 0
CUI: C0560346
Disease: Difficulty running
Difficulty running 		38 3 8 0.17 1 0.25
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		18 0 5 0.17 0 0
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy 		12 0 4 0.17 0 0
CUI: C1858593
Disease: Limb-girdle muscular dystrophy, type 2E
Limb-girdle muscular dystrophy, type 2E 		5 0 3 0.17 0 0
CUI: C1836057
Disease: Muscle fiber splitting
Muscle fiber splitting 		13 0 4 0.16 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 9 0.16 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 0 9 0.16 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 8 0.15 0 0
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy 		17 0 4 0.14 0 0
CUI: C2936332
Disease: Alpha-Sarcoglycanopathies
Alpha-Sarcoglycanopathies 		9 0 3 0.14 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 0 8 0.13 0 0
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		28 0 5 0.13 0 0
CUI: C0586738
Disease: Calf muscle weakness
Calf muscle weakness 		2 0 2 0.12 0 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		29 0 5 0.12 0 0
CUI: C1864716
Disease: Intrinsic hand muscle atrophy
Intrinsic hand muscle atrophy 		11 0 3 0.12 0 0
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		20 0 4 0.12 0 0
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		31 0 5 0.12 0 0
CUI: C0333759
Disease: Muscle fiber hypertrophy
Muscle fiber hypertrophy 		3 0 2 0.12 0 0