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 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 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 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 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 We detected six patients with CMS due to mutations in the rapsyn gene (RAPSN). 12929188 2003