LAMA5, laminin subunit alpha 5, 3911

N. diseases: 56; N. variants: 9
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 		0.010 GeneticVariation disease BEFREE A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. 29377152 2018