STXBP2, syntaxin binding protein 2, 6813

N. diseases: 37; N. variants: 12
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 Biomarker disease CTD_human
CUI: C0876991
Disease: Histiocytosis haematophagic
Histiocytosis haematophagic 		0.110 Biomarker disease HPO
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.100 Biomarker phenotype HPO
CUI: C0035021
Disease: Relapsing Fever
Relapsing Fever 		0.100 Biomarker disease HPO
CUI: C0241013
Disease: Increased serum ferritin
Increased serum ferritin 		0.100 Biomarker phenotype HPO
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		0.100 Biomarker phenotype HPO
CUI: C4023012
Disease: Abnormal natural killer cell physiology
Abnormal natural killer cell physiology 		0.100 Biomarker phenotype HPO
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
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: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		0.500 CausalMutation phenotype CLINVAR Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. 19884660 2009
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		0.500 GeneticVariation phenotype BEFREE Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. 19804848 2009
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		0.500 GeneticVariation phenotype BEFREE Here, we show that the gene encoding syntaxin-binding protein 2 (Munc18-2; official gene symbol STXBP2) is mutated in another subset of patients with FHL (designated by us as "FHL5"). 19884660 2009
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		0.500 CausalMutation phenotype 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 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