Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.500 GermlineCausalMutation ORPHANET Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. 27590285

2016