SNAP29, synaptosome associated protein 29, 9342

N. diseases: 70; N. variants: 4
Disease: Congenital ichthyosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.020 Biomarker disease BEFREE Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis. 21816950 2011
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.020 GeneticVariation disease BEFREE We identified a novel homozygous insertion in SNAP29 (c.486insA) in two sibs presenting with ichthyosis and dysgenesis of the corpus callosum. 21073448 2011