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: C0235986
Disease: Growth hormone excess
Growth hormone excess 		20 0 6 0.12 0 0
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		20 0 6 0.12 0 0
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth 		12 0 5 0.11 0 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		33 0 7 0.11 0 0
CUI: C3661489
Disease: Autosomal Dominant Myotubular Myopathy
Autosomal Dominant Myotubular Myopathy 		13 0 5 0.11 0 0
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		13 0 5 0.11 0 0
CUI: C0494360
Disease: Lipodystrophy, not elsewhere classified
Lipodystrophy, not elsewhere classified 		4 0 4 0.11 0 0
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		35 0 7 0.11 0 0
CUI: C0026821
Disease: Muscle Cramp
Muscle Cramp 		26 0 6 0.11 0 0
CUI: C0427064
Disease: Pelvic girdle weakness
Pelvic girdle weakness 		16 0 5 0.10 0 0
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		16 0 5 0.10 0 0
CUI: C4021526
Disease: Exercise-induced rhabdomyolysis
Exercise-induced rhabdomyolysis 		6 1 4 0.10 1 0.25
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		28 0 6 0.10 0 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		39 0 7 0.10 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 16 14 0.10 1 5.3E-02
CUI: C0270984
Disease: Metabolic myopathy
Metabolic myopathy 		18 0 5 1.0E-01 0 0
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		18 0 5 1.0E-01 0 0
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		41 0 7 9.9E-02 0 0
CUI: C1866241
Disease: Broad foot
Broad foot 		30 0 6 9.8E-02 0 0
CUI: C4551838
Disease: Talipes transversoplanus
Talipes transversoplanus 		30 0 6 9.8E-02 0 0
CUI: C1845155
Disease: Exercise-induced myoglobinuria
Exercise-induced myoglobinuria 		8 0 4 9.8E-02 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 13 9.6E-02 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 8 9.5E-02 0 0
CUI: C4025573
Disease: Increased muscle fatiguability
Increased muscle fatiguability 		9 0 4 9.5E-02 0 0
CUI: C1857657
Disease: Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue 		21 0 5 9.4E-02 0 0