STXBP2, syntaxin binding protein 2, 6813

N. diseases: 37; N. variants: 12
Disease: Macrophage Activation Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1096155
Disease: Macrophage Activation Syndrome
Macrophage Activation Syndrome 		0.010 Biomarker disease BEFREE Heterozygous protein-altering rare variants in the known genes (LYST,MUNC13-4, and STXBP2) were found in 5 of 14 patients with systemic JIA and MAS (35.7%). 25047945 2014