rs879253789, SCN4A

N. diseases: 2
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MYASTHENIC SYNDROME, CONGENITAL, 16
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
0.700 GeneticVariation UNIPROT A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. 26659129 2016
MYASTHENIC SYNDROME, CONGENITAL, 16
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
0.700 GeneticVariation UNIPROT Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome. 25707578 2015
MYASTHENIC SYNDROME, CONGENITAL, 16
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
0.700 GeneticVariation UNIPROT Myasthenic syndrome caused by mutation of the SCN4A sodium channel. 12766226 2003