SYN1, synapsin I, 6853

N. diseases: 80; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845343
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 		0.700 Biomarker disease GENOMICS_ENGLAND SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. 21441247 2011
CUI: C1845343
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 		0.700 GermlineCausalMutation disease ORPHANET Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. 14985377 2004
CUI: C1845343
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 		0.700 GeneticVariation disease CLINVAR
CUI: C1845343
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 		0.700 Biomarker disease CTD_human
CUI: C1845343
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 		0.700 CausalMutation disease CLINVAR
CUI: C1845343
Disease: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease PSYGENET The allelic frequencies of rs1142636 (SYN1) were associated with schizophrenia (P < 0.05), respectively. 22807112 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 GeneticVariation disease BEFREE The allelic frequencies of rs1142636 (SYN1) were associated with schizophrenia (P < 0.05), respectively. 22807112 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease PSYGENET These findings demonstrate that the nucleocytoplasmic shuttling of dysbindin-1 regulates synapsin I expression and thus may be involved in the pathogenesis of schizophrenia. 20921223 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 AlteredExpression disease BEFREE These findings demonstrate that the nucleocytoplasmic shuttling of dysbindin-1 regulates synapsin I expression and thus may be involved in the pathogenesis of schizophrenia. 20921223 2010
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 GeneticVariation disease BEFREE Q555X-hSynI induced larger facilitation and post-tetanic potentiation in excitatory synapses and stronger depression after long trains in inhibitory synapses. 23406870 2013
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 Biomarker disease PSYGENET Q555X-hSynI induced larger facilitation and post-tetanic potentiation in excitatory synapses and stronger depression after long trains in inhibitory synapses. 23406870 2013
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.310 Biomarker disease PSYGENET Q555X-hSynI induced larger facilitation and post-tetanic potentiation in excitatory synapses and stronger depression after long trains in inhibitory synapses. 23406870 2013
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.310 GeneticVariation disease BEFREE Q555X-hSynI induced larger facilitation and post-tetanic potentiation in excitatory synapses and stronger depression after long trains in inhibitory synapses. 23406870 2013
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 Biomarker disease PSYGENET Synapsin-I- and synapsin-II-null mice display an increased age-dependent cognitive impairment. 18713831 2008
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.310 Biomarker disease PSYGENET Synapsin-I- and synapsin-II-null mice display an increased age-dependent cognitive impairment. 18713831 2008
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 Biomarker disease PSYGENET Simultaneously, the region-dependent alteration of synapsin I is correlated with depression-associated behaviors. 17392736 2007
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.310 Biomarker disease PSYGENET Simultaneously, the region-dependent alteration of synapsin I is correlated with depression-associated behaviors. 17392736 2007
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 Biomarker disease PSYGENET Essential functions of synapsins I and II in synaptic vesicle regulation. 7777057 1995
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.310 Biomarker disease PSYGENET Essential functions of synapsins I and II in synaptic vesicle regulation. 7777057 1995
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.250 Biomarker disease BEFREE Mutations in Synapsin (SYN) genes, particularly SYN1 and SYN2, have been recently associated with ASD and epilepsy in humans. 28922833 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.250 GeneticVariation disease BEFREE Detailed neuropsychological assessments revealed that SYN1 Q555X male mutation carriers showed specific language impairment and mild autistic spectrum disorder. 26096837 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.250 GeneticVariation disease BEFREE Synapsin knock-out (Syn1(-/-) ) mice display an epileptic phenotype and mutations in the SYN1 gene have been identified in individuals affected by epilepsy and/or autism spectrum disorder. 23818987 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.250 Biomarker disease BEFREE Taken together, these findings suggest PRICKLE1 mutations contribute to ASD by disrupting the interaction with SYN1 and regulation of synaptic vesicles. 24312498 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.250 Biomarker disease BEFREE These results demonstrate that SYN1 is a novel predisposing gene to ASDs, in addition to epilepsy, and strengthen the hypothesis that a disturbance of synaptic homeostasis underlies the pathogenesis of both diseases. 21441247 2011