SLC18A3, solute carrier family 18 member A3, 6572

N. diseases: 117; N. variants: 3
Disease: Congenital Myasthenic Syndromes, Presynaptic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.500 GermlineCausalMutation disease ORPHANET Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. 27590285 2016
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		0.500 Biomarker disease CTD_human