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: C4025566
Disease: Muscle abnormality related to mitochondrial dysfunction
Muscle abnormality related to mitochondrial dysfunction 		5 0 4 0.24 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 8 0.22 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 5 0.20 0 0
CUI: C1864449
Disease: Limited neck flexion
Limited neck flexion 		3 0 3 0.19 0 0
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		16 0 4 0.14 0 0
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		44 0 7 0.13 0 0
CUI: C3808250
Disease: Reduced forced vital capacity
Reduced forced vital capacity 		10 0 3 0.13 0 0
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		28 0 5 0.13 0 0
CUI: C1450052
Disease: Tibial Muscular Dystrophy
Tibial Muscular Dystrophy 		2 0 2 0.12 0 0
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		11 0 3 0.12 0 0
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy 		12 0 3 0.12 0 0
CUI: C0333759
Disease: Muscle fiber hypertrophy
Muscle fiber hypertrophy 		3 0 2 0.12 0 0
CUI: C4025138
Disease: Multiple skeletal anomalies
Multiple skeletal anomalies 		3 2 2 0.12 1 0.14
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		3 0 2 0.12 0 0
CUI: C0409354
Disease: Flexion contracture of hip
Flexion contracture of hip 		4 5 2 0.11 3 0.38
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		14 0 3 0.11 0 0
CUI: C1857025
Disease: Progressive congenital scoliosis
Progressive congenital scoliosis 		4 1 2 0.11 1 0.17
CUI: C3807025
Disease: Intermittent episodes of respiratory insufficiency due to muscle weakness
Intermittent episodes of respiratory insufficiency due to muscle weakness 		14 0 3 0.11 0 0
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		25 0 4 0.11 0 0
CUI: C0231616
Disease: Beevor's sign
Beevor's sign 		5 0 2 0.11 0 0
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
MERRF/MELAS OVERLAP SYNDROME 		5 0 2 0.11 0 0
CUI: C4021054
Disease: Reduced muscle collagen VI
Reduced muscle collagen VI 		5 0 2 0.11 0 0
CUI: C4024612
Disease: Tibialis muscle weakness
Tibialis muscle weakness 		5 0 2 0.11 0 0
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		16 0 3 0.10 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 5 1.0E-01 0 0