Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		0.600 GeneticVariation disease UNIPROT Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. 15079006 2004
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		0.600 Biomarker disease GENOMICS_ENGLAND Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. 15079006 2004
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		0.600 GeneticVariation disease UNIPROT Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating. 12588888 2003
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		0.600 GeneticVariation disease UNIPROT Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. 10195214 1999
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		0.600 CausalMutation disease CLINVAR