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: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		4 0 3 0.75 0 0
CUI: C3151525
Disease: Hypoplastic heart
Hypoplastic heart 		3 0 2 0.50 0 0
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		3 0 2 0.50 0 0
CUI: C1867448
Disease: Multiple pterygia
Multiple pterygia 		4 0 2 0.40 0 0
CUI: C3151523
Disease: Abnormal cervical curvature
Abnormal cervical curvature 		4 0 2 0.40 0 0
CUI: C1853949
Disease: MYASTHENIA, FAMILIAL INFANTILE, 1
MYASTHENIA, FAMILIAL INFANTILE, 1 		1 0 1 0.33 0 0
CUI: C2931107
Disease: Myasthenic syndrome, congenital, postsynaptic slow-channel
Myasthenic syndrome, congenital, postsynaptic slow-channel 		1 0 1 0.33 0 0
CUI: C4225370
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		1 0 1 0.33 0 0
CUI: C4225371
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL 		1 0 1 0.33 0 0
CUI: C4225372
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL 		1 0 1 0.33 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 0.25 0 0
CUI: C3277076
Disease: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT 		2 0 1 0.25 0 0
CUI: C3278148
Disease: BERNARD-SOULIER SYNDROME, TYPE A1
BERNARD-SOULIER SYNDROME, TYPE A1 		2 0 1 0.25 0 0
CUI: C4225369
Disease: MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL 		2 0 1 0.25 0 0
CUI: C4225413
Disease: MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL 		2 0 1 0.25 0 0
CUI: C0085619
Disease: Orthopnea
Orthopnea 		13 0 3 0.23 0 0
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		13 0 3 0.23 0 0
CUI: C4022584
Disease: Fatigable weakness of neck muscles
Fatigable weakness of neck muscles 		13 0 3 0.23 0 0
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		8 0 2 0.22 0 0
CUI: C1864238
Disease: Prolonged miniature endplate currents
Prolonged miniature endplate currents 		3 0 1 0.20 0 0
CUI: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		15 0 3 0.20 0 0
CUI: C2228039
Disease: Ankle weakness
Ankle weakness 		16 0 3 0.19 0 0
CUI: C3279725
Disease: Hip flexor weakness
Hip flexor weakness 		16 0 3 0.19 0 0
CUI: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle 		17 0 3 0.18 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 1 0.17 0 0