LAMA5, laminin subunit alpha 5, 3911

N. diseases: 56; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027092
Disease: Myopia
Myopia
0.010 GeneticVariation disease BEFREE Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. 28544784 2017