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 14 0.19 0 0
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		40 0 12 0.16 0 0
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		30 0 10 0.15 0 0
CUI: C3808039
Disease: Nemaline bodies
Nemaline bodies 		15 0 8 0.15 0 0
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb 		42 0 11 0.14 0 0
CUI: C0085623
Disease: Akinesia
Akinesia 		43 0 11 0.14 0 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		44 0 11 0.14 0 0
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		133 0 21 0.13 0 0
CUI: C0813217
Disease: Expressionless face
Expressionless face 		31 0 9 0.13 0 0
CUI: C4022583
Disease: Fatiguable weakness of proximal limb muscles
Fatiguable weakness of proximal limb muscles 		14 0 7 0.13 0 0
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity 		24 0 8 0.13 0 0
CUI: C1866021
Disease: Increased connective tissue
Increased connective tissue 		16 0 7 0.12 0 0
CUI: C4022585
Disease: Fatigable weakness of distal limb muscles
Fatigable weakness of distal limb muscles 		8 0 6 0.12 0 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		29 0 8 0.12 0 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		50 0 10 0.11 0 0
CUI: C4025729
Disease: Neuromuscular dysphagia
Neuromuscular dysphagia 		12 0 6 0.11 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 14 0.11 0 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 13 0.11 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 6 0.11 0 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		56 0 10 0.11 0 0
CUI: C1853171
Disease: Multiple prenatal fractures
Multiple prenatal fractures 		15 0 6 0.11 0 0
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		5 0 5 0.11 0 0
CUI: C3277376
Disease: Multiple mitochondrial DNA deletions
Multiple mitochondrial DNA deletions 		6 0 5 0.10 0 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		49 0 9 0.10 0 0
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		60 0 10 0.10 0 0