STX5, syntaxin 5, 6811

N. diseases: 9; N. variants: 0
Disease: Spondyloepiphyseal Dysplasia Tarda, X-Linked ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3541456
Disease: Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		0.010 GeneticVariation disease BEFREE Here, we show that C2 binds to the SNARE protein Syntaxin 5 and this interaction is weakened by an SEDT-causing missense mutation (D47Y). 23898804 2013