STXBP2, syntaxin binding protein 2, 6813

N. diseases: 37; N. variants: 12
Disease: Histiocytosis haematophagic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0876991
Disease: Histiocytosis haematophagic
Histiocytosis haematophagic 		0.110 AlteredExpression disease BEFREE Mutations in STXBP2/Munc18-2 lead to impaired killing of target cells by natural killer cells and cytotoxic T lymphocytes, which in turn results in elevated levels of the inflammatory cytokine interferon γ, macrophage activation, and hemophagocytosis. 26320718 2015
CUI: C0876991
Disease: Histiocytosis haematophagic
Histiocytosis haematophagic 		0.110 Biomarker disease HPO