Disease: Myasthenic Syndromes, Congenital ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 Biomarker disease BEFREE FADS has been reported to be caused by pathogenic variants in genes previously associated with CMS including these involved in endplate development and maintenance: MuSK, DOK7, and RAPSN. 31730230 2020
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 AlteredExpression disease LHGDN Common founder effect of rapsyn N88K studied using intragenic markers. 15252722 2004
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 CausalMutation disease CLINVAR Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. 12807980 2003
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 CausalMutation disease CLINVAR A sporadic CMS patient from Germany was analyzed for RAPSN mutations by RFLP, long-range PCR and sequence analysis. 15482960 2004
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 CausalMutation disease CLINVAR We here report two novel E-box mutations in the RAPSN promoter region in eight congenital myasthenic syndrome patients. 12651869 2003
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 CausalMutation disease CLINVAR Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders. 14729848 2004