SLC18A3, solute carrier family 18 member A3, 6572

N. diseases: 117; N. variants: 3
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
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.550 Biomarker disease BEFREE The previously detected SLC18A3 defects have been associated with congenital myasthenic syndromes, and therefore our findings extend the clinical spectrum of SLC18A3 defects to severe prenatal phenotypes. 31059209 2019
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.550 Biomarker disease BEFREE Fast and slow-twitching muscles are differentially affected by reduced cholinergic transmission in mice deficient for VAChT: A mouse model for congenital myasthenia. 30003945 2018
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.550 GeneticVariation disease BEFREE How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome. 29130637 2018
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.550 Biomarker disease BEFREE Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome. 28188302 2017
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.550 GeneticVariation disease BEFREE These findings make it very likely that defects in VAChT due to variants in SLC18A3 are a cause of congenital myasthenic syndrome in humans. 27590285 2016
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.550 Biomarker disease GENOMICS_ENGLAND These findings make it very likely that defects in VAChT due to variants in SLC18A3 are a cause of congenital myasthenic syndrome in humans. 27590285 2016
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.550 Biomarker disease CTD_human
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
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 Biomarker disease GENOMICS_ENGLAND Our results underline the importance of including SLC18A3 sequencing in the differential diagnostics of fetuses with arthrogryposis, FADS, or LMPS of unknown etiology. 31059209 2019
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 GeneticVariation disease BEFREE Our results underline the importance of including SLC18A3 sequencing in the differential diagnostics of fetuses with arthrogryposis, FADS, or LMPS of unknown etiology. 31059209 2019
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 Biomarker disease BEFREE Loss of function of VAChT underlies severe arthrogryposis and respiratory failure. 28188302 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 Biomarker disease HPO
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.310 GermlineCausalMutation disease ORPHANET Our results underline the importance of including SLC18A3 sequencing in the differential diagnostics of fetuses with arthrogryposis, FADS, or LMPS of unknown etiology. 31059209 2019
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.310 GeneticVariation disease BEFREE SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy. 31059209 2019
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		0.300 Biomarker disease CTD_human
CUI: C0751885
Disease: Myasthenic Syndromes, Congenital, Slow Channel
Myasthenic Syndromes, Congenital, Slow Channel 		0.300 Biomarker disease CTD_human
CUI: C0004096
Disease: Asthma
Asthma 		0.200 Biomarker disease RGD Down-regulation of the non-neuronal acetylcholine synthesis and release machinery in acute allergic airway inflammation of rat and mouse. 17328924 2007
CUI: C0005686
Disease: Urinary Bladder Diseases
Urinary Bladder Diseases 		0.200 Biomarker group RGD Transient suppression of the vesicular acetylcholine transporter in urinary bladder pathways following spinal cord injury. 17229408 2007
CUI: C0376618
Disease: Endotoxemia
Endotoxemia 		0.200 Biomarker phenotype RGD Long-term cognitive impairment, neuronal loss and reduced cortical cholinergic innervation after recovery from sepsis in a rodent model. 17306796 2007
CUI: C0947912
Disease: Myasthenias
Myasthenias 		0.110 GeneticVariation disease BEFREE Second, loss of function mutations in VAChT causes myasthenia in humans. 30003945 2018