STXBP2, syntaxin binding protein 2, 6813

N. diseases: 37; N. variants: 12
Disease: Familial Hemophagocytic Lymphocytosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		0.500 GermlineCausalMutation phenotype ORPHANET Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. 11179007 2001