SYP, synaptophysin, 6855

N. diseases: 19; N. variants: 2
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3275408
Disease: MENTAL RETARDATION, X-LINKED 96
MENTAL RETARDATION, X-LINKED 96 		0.700 Biomarker disease GENOMICS_ENGLAND A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
CUI: C3275408
Disease: MENTAL RETARDATION, X-LINKED 96
MENTAL RETARDATION, X-LINKED 96 		0.700 GeneticVariation disease UNIPROT A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
CUI: C3275408
Disease: MENTAL RETARDATION, X-LINKED 96
MENTAL RETARDATION, X-LINKED 96 		0.700 Biomarker disease CTD_human
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.500 Biomarker disease CTD_human The screen has discovered nine genes implicated in XLMR, including SYP, ZNF711 and CASK reported here, confirming the power of this strategy. 19377476 2009
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.370 Biomarker disease CTD_human In schizophrenia, synaptophysin mRNA was decreased, as was complexin II and its mRNA. 11483314 2001
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.350 Biomarker phenotype CTD_human Expression of VGLUTs contributes to degeneration and acquisition of learning and memory. 21295146 2011
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.310 Biomarker disease CTD_human Neuroendocrine differentiation as an indicator of chemosensitivity and prognosis in nonsmall cell lung cancer. 21595568 2011
CUI: C0751295
Disease: Memory Loss
Memory Loss 		0.310 Biomarker phenotype CTD_human Expression of VGLUTs contributes to degeneration and acquisition of learning and memory. 21295146 2011
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder. 28887151 2017
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
CEROID LIPOFUSCINOSIS, NEURONAL, 6 		0.300 Biomarker disease CTD_human Increased zinc and manganese in parallel with neurodegeneration, synaptic protein changes and activation of Akt/GSK3 signaling in ovine CLN6 neuronal ceroid lipofuscinosis. 23516525 2013
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN X-linked intellectual disability-associated mutations in synaptophysin disrupt synaptobrevin II retrieval. 23966691 2013
CUI: C0023186
Disease: Learning Disorders
Learning Disorders 		0.300 Biomarker group CTD_human Expression of VGLUTs contributes to degeneration and acquisition of learning and memory. 21295146 2011
CUI: C0025261
Disease: Memory Disorders
Memory Disorders 		0.300 Biomarker disease CTD_human Expression of VGLUTs contributes to degeneration and acquisition of learning and memory. 21295146 2011
CUI: C0751262
Disease: Adult Learning Disorders
Adult Learning Disorders 		0.300 Biomarker group CTD_human Expression of VGLUTs contributes to degeneration and acquisition of learning and memory. 21295146 2011
CUI: C0751263
Disease: Learning Disturbance
Learning Disturbance 		0.300 Biomarker disease CTD_human Expression of VGLUTs contributes to degeneration and acquisition of learning and memory. 21295146 2011
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		0.300 Biomarker disease CTD_human Expression of VGLUTs contributes to degeneration and acquisition of learning and memory. 21295146 2011
CUI: C0751292
Disease: Age-Related Memory Disorders
Age-Related Memory Disorders 		0.300 Biomarker group CTD_human Expression of VGLUTs contributes to degeneration and acquisition of learning and memory. 21295146 2011
CUI: C0751293
Disease: Memory Disorder, Semantic
Memory Disorder, Semantic 		0.300 Biomarker phenotype CTD_human Expression of VGLUTs contributes to degeneration and acquisition of learning and memory. 21295146 2011
CUI: C0751294
Disease: Memory Disorder, Spatial
Memory Disorder, Spatial 		0.300 Biomarker phenotype CTD_human Expression of VGLUTs contributes to degeneration and acquisition of learning and memory. 21295146 2011
CUI: C1330966
Disease: Developmental Academic Disorder
Developmental Academic Disorder 		0.300 Biomarker phenotype CTD_human Expression of VGLUTs contributes to degeneration and acquisition of learning and memory. 21295146 2011
CUI: C2931673
Disease: Ceroid lipofuscinosis, neuronal 1, infantile
Ceroid lipofuscinosis, neuronal 1, infantile 		0.300 Biomarker disease CTD_human Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol. 21224254 2011
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN Synaptophysin regulates the kinetics of synaptic vesicle endocytosis in central neurons. 21658579 2011
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.300 GermlineCausalMutation disease ORPHANET A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009