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 		0.510 Biomarker disease GENOMICS_ENGLAND Identification of DPAGT1, ALG14 and ALG2 mutations as a cause of congenital myasthenic syndrome underscores the importance of asparagine-linked protein glycosylation for proper functioning of the neuromuscular junction. 23404334 2013
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.510 GeneticVariation disease BEFREE We identify ALG14 and ALG2 as novel genes in which mutations cause a congenital myasthenic syndrome. 23404334 2013
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.510 Biomarker disease CTD_human