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: C1836003
Disease: Facial diplegia
Facial diplegia 		42 0 16 0.24 0 0
CUI: C4025729
Disease: Neuromuscular dysphagia
Neuromuscular dysphagia 		12 0 8 0.17 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 13 0.17 0 0
CUI: C0546125
Disease: Nemaline Myopathy, Childhood Onset
Nemaline Myopathy, Childhood Onset 		7 0 7 0.17 0 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		51 0 13 0.16 0 0
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		46 0 12 0.16 0 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		70 0 15 0.15 0 0
CUI: C1858729
Disease: Decreased motor nerve conduction velocity
Decreased motor nerve conduction velocity 		41 0 11 0.15 0 0
CUI: C1806780
Disease: Increased CSF protein
Increased CSF protein 		26 0 9 0.15 0 0
CUI: C4021727
Disease: EMG: neuropathic changes
EMG: neuropathic changes 		28 5 9 0.15 1 0.14
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 9 0.15 0 0
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		14 0 7 0.14 0 0
CUI: C4022591
Disease: Fatigable weakness of bulbar muscles
Fatigable weakness of bulbar muscles 		14 0 7 0.14 0 0
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		47 0 11 0.14 0 0
CUI: C3808039
Disease: Nemaline bodies
Nemaline bodies 		15 0 7 0.14 0 0
CUI: C0233844
Disease: Clumsiness
Clumsiness 		48 0 11 0.14 0 0
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		33 0 9 0.14 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 11 0.14 0 0
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		76 0 14 0.13 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 15 0.13 0 0
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		28 0 8 0.13 0 0
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		30 0 8 0.12 0 0
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy 		21 0 7 0.12 0 0
CUI: C1408182
Disease: Hereditary motor and sensory neuropathy, types I-IV
Hereditary motor and sensory neuropathy, types I-IV 		21 0 7 0.12 0 0
CUI: C1838114
Disease: Generalized limb muscle atrophy
Generalized limb muscle atrophy 		21 0 7 0.12 0 0