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: rs1565922395
rs1565922395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1565922395
rs1565922395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1565922395
rs1565922395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C1843367
Disease:
Poor school performance 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1565962725
rs1565962725
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0021125
Disease:
Impulsive Behavior 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1565962725
rs1565962725
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C1843367
Disease:
Poor school performance 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1565962725
rs1565962725
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1565962725
rs1565962725
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0557874
Disease:
Global developmental delay 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1565962725
rs1565962725
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Defective recycling of synaptic vesicles in synaptotagmin mutants of Caenorhabditis elegans. 7477324 1995
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Defective recycling of synaptic vesicles in synaptotagmin mutants of Caenorhabditis elegans. 7477324 1995
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Synaptotagmin I: a major Ca2+ sensor for transmitter release at a central synapse. 7954835 1994
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Synaptotagmin I: a major Ca2+ sensor for transmitter release at a central synapse. 7954835 1994
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
dbSNP: rs1555226395
rs1555226395
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Drosophila synaptotagmin I null mutants survive to early adulthood. 11668675 2001
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 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 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 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 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: 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: 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 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873 2009