Disease: MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225371
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL 		0.600 GeneticVariation disease UNIPROT Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating. 18398509 2008
CUI: C4225371
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL 		0.600 Biomarker disease GENOMICS_ENGLAND CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. 16916845 2006
CUI: C4225371
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL 		0.600 GeneticVariation disease UNIPROT Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. 12499478 2002
CUI: C4225371
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL 		0.600 Biomarker disease GENOMICS_ENGLAND Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. 11435464 2001
CUI: C4225371
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL 		0.600 GeneticVariation disease UNIPROT Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. 11435464 2001
CUI: C4225371
Disease: MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL 		0.600 CausalMutation disease CLINVAR