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 GeneticVariation disease BEFREE We applied IntSplice to a naturally occurring and nine artificial intronic mutations in RAPSN causing congenital myasthenic syndrome. 27009626 2016
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 GeneticVariation disease BEFREE In conclusion, mutations in RAPSN and COLQ are the most common causes of CMS in our cohort. 28024842 2017
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 GeneticVariation disease BEFREE Because late-onset congenital myasthenic syndromes (CMSs) due to RAPSN or DOK7 mutations may be mistaken for SNMG, we investigated their frequency in a nationwide SNMG cohort. 21305573 2011
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 GeneticVariation disease LHGDN 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 GeneticVariation disease LHGDN 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 GeneticVariation disease LHGDN However, absence of a N88K allele does not exclude underlying RAPSN mutations as cause of the congenital myasthenic syndromes. 16931511 2006
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 GeneticVariation disease BEFREE Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes. 20157724 2010
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 GeneticVariation disease BEFREE A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. 15482960 2004
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 GeneticVariation disease LHGDN Humans with mutations in the rapsyn gene ( RAPSN) are affected with a postsynaptic form of congenital myasthenic syndrome (CMS) characterized by impairment of the morphologic development of the postsynaptic region. 12730725 2003
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 GeneticVariation disease BEFREE This study identified two confirmed pathogenic mutations in the RAPSN gene that are associated with congenital myasthenic syndrome (OMIM 608931). 25194721 2014
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 GeneticVariation disease BEFREE A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome. 22326364 2012
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 GeneticVariation disease BEFREE To perform mutation analysis of the RAPSN gene in patients with sporadic or autosomal recessive CMS. 12796535 2003
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 GeneticVariation disease BEFREE Direct sequencing of RAPSN in two children with congenital myasthenic syndromes with no mutation in any of the AChR subunits identified two heterozygous recessive mutations in each: a previously characterized N88K mutation in both, and a second frameshifting mutation in Patient (Pt) 1 and a nonsense mutation in Pt 2. 15036330 2004
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 GeneticVariation disease BEFREE E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. 12651869 2003
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 GeneticVariation disease BEFREE Analysis of the rapsyn promoter revealed a consensus site for the transcription factor Kaiso within a region that is mutated in a subset of patients with congenital myasthenic syndrome. 15282317 2004
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 GeneticVariation disease BEFREE Humans with mutations in the rapsyn gene ( RAPSN) are affected with a postsynaptic form of congenital myasthenic syndrome (CMS) characterized by impairment of the morphologic development of the postsynaptic region. 12730725 2003
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 GeneticVariation disease LHGDN 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 GeneticVariation disease BEFREE Remarkably, several founder mutations made a large contribution to CMS in Spain: RAPSN c.264C > A (p.Asn88Lys), CHRNE c.130insG (Glu44Glyfs*3), CHRNE c.1353insG (p.Asn542Gluf*4), DOK7 c.1124_1127dup (p.Ala378Serfs*30), and particularly frequent in Spain in comparison with other populations, COLQ c.1289A > C (p.Tyr430Ser). 29054425 2017
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 GeneticVariation disease BEFREE We detected six patients with CMS due to mutations in the rapsyn gene (RAPSN). 12929188 2003
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 GeneticVariation disease BEFREE However, absence of a N88K allele does not exclude underlying RAPSN mutations as cause of the congenital myasthenic syndromes. 16931511 2006
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 Biomarker disease GENOMICS_ENGLAND Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. 14504330 2003
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 Biomarker disease BEFREE Other AChR subunits alpha1, beta1, and delta (CHRNA1, CHRNB1, CHRND) as well as receptor-associated protein of the synapse (RAPSN) previously revealed missense or compound nonsense-missense mutations in viable congenital myasthenic syndrome; lethality of homozygous null mutations was predicted but never shown. 18252226 2008
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 Biomarker disease BEFREE Moreover, it suggests that RAPSN CMS may be underdiagnosed in non-European countries. 30266223 2018
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 Biomarker disease BEFREE Since RAPSN-associated limb-girdle type CMS was only manifested in AK9 homozygous variant carriers, the disease phenotype was of digenic inheritance, and was determined by the novel disease modifier AK9 which provides NTPs for N-glycosylation. 27966543 2017
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.500 Biomarker disease GENOMICS_ENGLAND Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. 25792100 2015