SYP, synaptophysin, 6855

N. diseases: 243; N. variants: 3
Disease: Mental Retardation, X-Linked Nonsyndromic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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