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: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 17 0.19 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 27 0.19 0 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		112 0 26 0.18 0 0
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		48 0 16 0.18 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 17 0.18 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 15 0.18 0 0
CUI: C0234182
Disease: Gowers sign
Gowers sign 		54 8 16 0.17 2 0.17
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		25 0 11 0.16 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 19 0.16 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 23 0.15 0 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		73 0 17 0.15 0 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		29 0 11 0.15 0 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		126 0 23 0.14 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 7 13 0.14 2 0.18
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		117 0 21 0.14 0 0
CUI: C0869474
Disease: Dyscalculia
Dyscalculia 		20 0 9 0.13 0 0
CUI: C4025723
Disease: Abnormal upper motor neuron morphology
Abnormal upper motor neuron morphology 		20 0 9 0.13 0 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		182 0 28 0.13 0 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 10 0.13 0 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		42 0 11 0.13 0 0
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		16 0 8 0.12 0 0
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		26 0 9 0.12 0 0
CUI: C1849485
Disease: Neuronal loss in the cerebral cortex
Neuronal loss in the cerebral cortex 		8 0 7 0.12 0 0
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		54 0 12 0.12 0 0
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		28 0 9 0.12 0 0