SYT1, synaptotagmin 1, 6857

N. diseases: 460; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Bruchpilot and Synaptotagmin collaborate to drive rapid glutamate release and active zone differentiation. 25698934 2015
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Bruchpilot and Synaptotagmin collaborate to drive rapid glutamate release and active zone differentiation. 25698934 2015
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Dynamic binding mode of a Synaptotagmin-1-SNARE complex in solution. 26030874 2015
dbSNP: rs1565922388
rs1565922388
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		A 0.700 GeneticVariation CLINVAR Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. 25712080 2015
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Neurotransmitter release: the last millisecond in the life of a synaptic vesicle. 24183019 2013
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Genetic analysis of synaptotagmin C2 domain specificity in regulating spontaneous and evoked neurotransmitter release. 23283333 2013
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Genetic analysis of synaptotagmin C2 domain specificity in regulating spontaneous and evoked neurotransmitter release. 23283333 2013
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Neurotransmitter release: the last millisecond in the life of a synaptic vesicle. 24183019 2013
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Membrane penetration by synaptotagmin is required for coupling calcium binding to vesicle fusion in vivo. 21307261 2011
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Membrane penetration by synaptotagmin is required for coupling calcium binding to vesicle fusion in vivo. 21307261 2011
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Cyclic AMP-mediated endocytosis of intestinal epithelial NHE3 requires binding to synaptotagmin 1. 19926819 2010
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Cyclic AMP-mediated endocytosis of intestinal epithelial NHE3 requires binding to synaptotagmin 1. 19926819 2010
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873 2009
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873 2009
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR How does synaptotagmin trigger neurotransmitter release? 18275379 2008
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR How does synaptotagmin trigger neurotransmitter release? 18275379 2008
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Dual roles of the C2B domain of synaptotagmin I in synchronizing Ca2+-dependent neurotransmitter release. 15456828 2004
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Kinetic efficiency of endocytosis at mammalian CNS synapses requires synaptotagmin I. 15492212 2004
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR N-glycosylation is essential for vesicular targeting of synaptotagmin 1. 14715137 2004
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Dual roles of the C2B domain of synaptotagmin I in synchronizing Ca2+-dependent neurotransmitter release. 15456828 2004
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR N-glycosylation is essential for vesicular targeting of synaptotagmin 1. 14715137 2004
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Kinetic efficiency of endocytosis at mammalian CNS synapses requires synaptotagmin I. 15492212 2004
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR The C(2)B Ca(2+)-binding motif of synaptotagmin is required for synaptic transmission in vivo. 12110842 2002
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR The C(2)B Ca(2+)-binding motif of synaptotagmin is required for synaptic transmission in vivo. 12110842 2002
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Drosophila synaptotagmin I null mutants survive to early adulthood. 11668675 2001