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: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		C 0.800 GeneticVariation CLINVAR Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. 25705886 2015
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		C 0.800 GeneticVariation CLINVAR SYT1-associated neurodevelopmental disorder: a case series. 30107533 2018
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		0.800 GeneticVariation UNIPROT
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0454644
Disease:
Delayed speech and language development 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0028738
Disease:
Nystagmus 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0424503
Disease:
Dysmorphic facies 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026351
Disease:
Moderate intellectual disability 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0557874
Disease:
Global developmental delay 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0557874
Disease:
Global developmental delay 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0025990
Disease:
Micrognathism 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0021125
Disease:
Impulsive Behavior 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1135402761
rs1135402761
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C1843367
Disease:
Poor school performance 		C 0.700 CausalMutation CLINVAR
dbSNP: rs144900171
rs144900171
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0557874
Disease:
Global developmental delay 		G 0.700 CausalMutation CLINVAR
dbSNP: rs144900171
rs144900171
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0021125
Disease:
Impulsive Behavior 		G 0.700 CausalMutation CLINVAR
dbSNP: rs144900171
rs144900171
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR
dbSNP: rs144900171
rs144900171
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C1843367
Disease:
Poor school performance 		G 0.700 CausalMutation CLINVAR
dbSNP: rs144900171
rs144900171
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		G 0.700 CausalMutation CLINVAR
dbSNP: rs144900171
rs144900171
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
CUI: C4748715
Disease:
BAKER-GORDON SYNDROME 		G 0.700 GeneticVariation CLINVAR SYT1-associated neurodevelopmental disorder: a case series. 30107533 2018
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 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 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 Dual roles of the C2B domain of synaptotagmin I in synchronizing Ca2+-dependent neurotransmitter release. 15456828 2004