Disease: MYASTHENIC SYNDROME, CONGENITAL, 16 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
MYASTHENIC SYNDROME, CONGENITAL, 16 		0.600 GeneticVariation disease UNIPROT A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. 26659129 2016
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
MYASTHENIC SYNDROME, CONGENITAL, 16 		0.600 GeneticVariation disease UNIPROT Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome. 25707578 2015
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
MYASTHENIC SYNDROME, CONGENITAL, 16 		0.600 Biomarker disease GENOMICS_ENGLAND Correlating phenotype and genotype in the periodic paralyses. 15534250 2004
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
MYASTHENIC SYNDROME, CONGENITAL, 16 		0.600 Biomarker disease GENOMICS_ENGLAND Correlating phenotype and genotype in the periodic paralyses. 15534250 2004
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
MYASTHENIC SYNDROME, CONGENITAL, 16 		0.600 GeneticVariation disease UNIPROT Myasthenic syndrome caused by mutation of the SCN4A sodium channel. 12766226 2003
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
MYASTHENIC SYNDROME, CONGENITAL, 16 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
MYASTHENIC SYNDROME, CONGENITAL, 16 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
MYASTHENIC SYNDROME, CONGENITAL, 16 		0.600 GeneticVariation disease CLINVAR
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
MYASTHENIC SYNDROME, CONGENITAL, 16 		0.600 CausalMutation disease CLINVAR