Disease: MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225372
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL 		0.800 Biomarker disease GENOMICS_ENGLAND CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. 16916845 2006
CUI: C4225372
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL 		0.800 Biomarker disease GENOMICS_ENGLAND Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. 11782989 2002
CUI: C4225372
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL 		0.800 GeneticVariation disease UNIPROT Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. 11782989 2002
CUI: C4225372
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL 		0.800 Biomarker disease GENOMICS_ENGLAND Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. 11435464 2001
CUI: C4225372
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL 		0.800 GeneticVariation disease UNIPROT New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. 8872460 1996
CUI: C4225372
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL 		0.800 CausalMutation disease CLINVAR
CUI: C4225372
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL 		0.800 Biomarker disease MGD