AGRN, agrin, 375790

N. diseases: 124; N. variants: 11
Disease: Paresis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030552
Disease: Paresis
Paresis 		0.010 GeneticVariation phenotype BEFREE Pathogenic variants in AGRN have been described in families with a form of congenital myasthenic syndrome (CMS), manifesting in the early childhood with variable fatigable muscle weakness. 31730230 2020