STXBP2, syntaxin binding protein 2, 6813

N. diseases: 37; N. variants: 12
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 CausalMutation disease CLINVAR Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis. 28353193 2017
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 CausalMutation disease CLINVAR Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. 27577878 2017
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 Biomarker disease BEFREE Most recently, STXBP2 has been identified as the causative gene of type 5 FHL (FHL5) with a worldwide distribution. 26451869 2016
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 Biomarker disease GENOMICS_ENGLAND Clinical characteristics and genetic analysis of childhood acute lymphoblastic leukemia with hemophagocytic lymphohistiocytosis: a Japanese retrospective study by the Kyushu-Yamaguchi Children's Cancer Study Group. 24827398 2014
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 GeneticVariation disease CLINVAR Syntaxin binding mechanism and disease-causing mutations in Munc18-2. 24194549 2013
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 CausalMutation disease CLINVAR Syntaxin binding mechanism and disease-causing mutations in Munc18-2. 24194549 2013
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 CausalMutation disease CLINVAR Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations. 23687090 2013
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 CausalMutation disease CLINVAR Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations. 23382066 2013
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 CausalMutation disease CLINVAR Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). 22451424 2012
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 GeneticVariation disease CLINVAR Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2. 20558610 2010
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 CausalMutation disease CLINVAR Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. 20823128 2010
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 GeneticVariation disease CLINVAR Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. 20823128 2010
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 Biomarker disease GENOMICS_ENGLAND STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. 20798128 2010
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 CausalMutation disease CLINVAR Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2. 20558610 2010
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 GeneticVariation disease CLINVAR STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. 20798128 2010
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 Biomarker disease GENOMICS_ENGLAND STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. 20798128 2010
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 CausalMutation disease CLINVAR STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. 20798128 2010
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 CausalMutation disease CLINVAR Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. 19884660 2009
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 CausalMutation disease CLINVAR Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. 19804848 2009
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 GeneticVariation disease UNIPROT Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. 19884660 2009
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 Biomarker disease GENOMICS_ENGLAND Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. 19804848 2009
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 GeneticVariation disease UNIPROT Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. 19804848 2009
CUI: C2751293
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 		0.710 Biomarker disease CTD_human