AGRN, agrin, 375790

N. diseases: 124; N. variants: 11
Disease: Myasthenias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0947912
Disease: Myasthenias
Myasthenias 		0.110 GeneticVariation disease BEFREE By contrast, mutations in lipoprotein-like receptor 4 (LRP4), a long-time candidate gene for congenital myasthenia, and a novel phenotype of myasthenia with distal weakness and atrophy due to mutations in AGRN have now been described. 25305004 2014
CUI: C0947912
Disease: Myasthenias
Myasthenias 		0.110 Biomarker disease HPO