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: C1842364
Disease: Central hypotonia
Central hypotonia 		50 0 10 0.19 0 0
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		13 0 4 0.19 0 0
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		57 0 11 0.19 0 0
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		53 0 10 0.18 0 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		55 0 10 0.18 0 0
CUI: C0393929
Disease: Familial infantile myasthenia
Familial infantile myasthenia 		2 0 2 0.17 0 0
CUI: C0575157
Disease: Deformity of spine
Deformity of spine 		58 0 10 0.17 0 0
CUI: C1853950
Disease: Generalized hypotonia due to defect at the neuromuscular junction
Generalized hypotonia due to defect at the neuromuscular junction 		2 0 2 0.17 0 0
CUI: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		2 0 2 0.17 0 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		74 0 11 0.15 0 0
CUI: C0012569
Disease: Diplopia
Diplopia 		75 0 11 0.14 0 0
CUI: C0549225
Disease: Myasthenic Syndrome
Myasthenic Syndrome 		12 0 3 0.14 0 0
CUI: C0085619
Disease: Orthopnea
Orthopnea 		13 0 3 0.14 0 0
CUI: C4022584
Disease: Fatigable weakness of neck muscles
Fatigable weakness of neck muscles 		13 0 3 0.14 0 0
CUI: C1527344
Disease: Dysphonia
Dysphonia 		77 0 10 0.13 0 0
CUI: C4021728
Disease: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation 		24 0 4 0.12 0 0
CUI: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		15 0 3 0.12 0 0
CUI: C2228039
Disease: Ankle weakness
Ankle weakness 		16 0 3 0.12 0 0
CUI: C3279725
Disease: Hip flexor weakness
Hip flexor weakness 		16 0 3 0.12 0 0
CUI: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle 		17 0 3 0.12 0 0
CUI: C2230441
Disease: Triceps weakness
Triceps weakness 		18 0 3 0.11 0 0
CUI: C4024601
Disease: Weakness of long finger extensor muscles
Weakness of long finger extensor muscles 		18 0 3 0.11 0 0
CUI: C4015465
Disease: Thoracic kyphoscoliosis
Thoracic kyphoscoliosis 		19 0 3 0.11 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		103 0 11 0.11 0 0
CUI: C0566620
Disease: Nasal voice
Nasal voice 		93 0 10 0.11 0 0