SYT1, synaptotagmin 1, 6857

N. diseases: 460; N. variants: 15
Disease: Muscle hypotonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects. 27476655 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Transmembrane tethering of synaptotagmin to synaptic vesicles controls multiple modes of neurotransmitter release. 25775572 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. 25705886 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Dynamic binding mode of a Synaptotagmin-1-SNARE complex in solution. 26030874 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Bruchpilot and Synaptotagmin collaborate to drive rapid glutamate release and active zone differentiation. 25698934 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Genetic analysis of synaptotagmin C2 domain specificity in regulating spontaneous and evoked neurotransmitter release. 23283333 2013
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Neurotransmitter release: the last millisecond in the life of a synaptic vesicle. 24183019 2013
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Membrane penetration by synaptotagmin is required for coupling calcium binding to vesicle fusion in vivo. 21307261 2011
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Cyclic AMP-mediated endocytosis of intestinal epithelial NHE3 requires binding to synaptotagmin 1. 19926819 2010
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873 2009
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR How does synaptotagmin trigger neurotransmitter release? 18275379 2008
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Dual roles of the C2B domain of synaptotagmin I in synchronizing Ca2+-dependent neurotransmitter release. 15456828 2004
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Kinetic efficiency of endocytosis at mammalian CNS synapses requires synaptotagmin I. 15492212 2004
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR N-glycosylation is essential for vesicular targeting of synaptotagmin 1. 14715137 2004
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR The C(2)B Ca(2+)-binding motif of synaptotagmin is required for synaptic transmission in vivo. 12110842 2002
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Drosophila synaptotagmin I null mutants survive to early adulthood. 11668675 2001
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Defective recycling of synaptic vesicles in synaptotagmin mutants of Caenorhabditis elegans. 7477324 1995
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Synaptotagmin I: a major Ca2+ sensor for transmitter release at a central synapse. 7954835 1994