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: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		118 37 18 0.11 1 2.6E-02
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		171 0 23 0.11 0 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		46 0 11 0.10 0 0
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		20 0 8 9.8E-02 0 0
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		280 0 29 9.0E-02 0 0
CUI: C0030552
Disease: Paresis
Paresis 		216 49 23 8.7E-02 1 2.0E-02
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 13 7.7E-02 0 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		29 0 7 7.6E-02 0 0
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		86 0 11 7.6E-02 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 3 10 7.5E-02 1 0.20
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		32 0 7 7.4E-02 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		228 43 20 7.2E-02 1 2.2E-02
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		35 0 7 7.1E-02 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 8 7.1E-02 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 7 8 7.1E-02 1 0.11
CUI: C1849140
Disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 		23 0 6 6.9E-02 0 0
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		92 0 10 6.6E-02 0 0
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		61 0 8 6.5E-02 0 0
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		63 0 8 6.4E-02 0 0
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		30 0 6 6.4E-02 0 0
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		14 0 5 6.3E-02 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 11 6.3E-02 0 0
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		31 0 6 6.3E-02 0 0
CUI: C0026846
Disease: Muscular Atrophy
Muscular Atrophy 		49 0 7 6.2E-02 0 0
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		375 0 26 6.2E-02 0 0