SLC18A3, solute carrier family 18 member A3, 6572

N. diseases: 117; N. variants: 3
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		0.600 Biomarker disease GENOMICS_ENGLAND SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy. 31059209 2019
CUI: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		0.600 GeneticVariation disease UNIPROT Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. 27590285 2016
CUI: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		0.600 Biomarker disease GENOMICS_ENGLAND Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. 27590285 2016
CUI: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		0.600 CausalMutation disease CLINVAR