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: C4225369
Disease: MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL 		2 6 2 0.40 2 8.0E-02
CUI: C4225413
Disease: MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL 		2 17 2 0.40 1 2.7E-02
CUI: C0393933
Disease: Pseudomyopathic myasthenia
Pseudomyopathic myasthenia 		3 0 2 0.33 0 0
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		3 0 2 0.33 0 0
CUI: C1837092
Disease: Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency 		4 0 2 0.29 0 0
CUI: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		15 0 4 0.25 0 0
CUI: C0085619
Disease: Orthopnea
Orthopnea 		13 0 3 0.20 0 0
CUI: C1853949
Disease: MYASTHENIA, FAMILIAL INFANTILE, 1
MYASTHENIA, FAMILIAL INFANTILE, 1 		1 0 1 0.20 0 0
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		13 0 3 0.20 0 0
CUI: C3552335
Disease: MYASTHENIC SYNDROME, CONGENITAL, 12
MYASTHENIC SYNDROME, CONGENITAL, 12 		1 0 1 0.20 0 0
CUI: C4021640
Disease: Intestinal hypoplasia
Intestinal hypoplasia 		7 0 2 0.20 0 0
CUI: C4022584
Disease: Fatigable weakness of neck muscles
Fatigable weakness of neck muscles 		13 0 3 0.20 0 0
CUI: C4225367
Disease: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		1 13 1 0.20 1 3.0E-02
CUI: C4225368
Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		1 0 1 0.20 0 0
CUI: C0333768
Disease: Tubular aggregates
Tubular aggregates 		2 0 1 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 1 0.17 0 0
CUI: C2228039
Disease: Ankle weakness
Ankle weakness 		16 0 3 0.17 0 0
CUI: C3277076
Disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT 		2 0 1 0.17 0 0
CUI: C3278148
Disease: BERNARD-SOULIER SYNDROME, TYPE A1
BERNARD-SOULIER SYNDROME, TYPE A1 		2 0 1 0.17 0 0
CUI: C3279725
Disease: Hip flexor weakness
Hip flexor weakness 		16 0 3 0.17 0 0
CUI: C4021262
Disease: Absent palmar crease
Absent palmar crease 		9 0 2 0.17 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 0.16 0 0
CUI: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle 		17 0 3 0.16 0 0
CUI: C2230441
Disease: Triceps weakness
Triceps weakness 		18 0 3 0.15 0 0
CUI: C4024601
Disease: Weakness of long finger extensor muscles
Weakness of long finger extensor muscles 		18 0 3 0.15 0 0