UNC13D, unc-13 homolog D, 201294

N. diseases: 48; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837174
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		0.860 Biomarker disease CTD_human
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis 		0.100 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0015967
Disease: Fever
Fever 		0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.100 Biomarker phenotype HPO
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		0.100 Biomarker disease HPO
CUI: C0876991
Disease: Histiocytosis haematophagic
Histiocytosis haematophagic 		0.100 GeneticVariation disease CLINVAR
CUI: C0876991
Disease: Histiocytosis haematophagic
Histiocytosis haematophagic 		0.100 Biomarker disease HPO
CUI: C1839969
Disease: Reduced natural killer cell activity
Reduced natural killer cell activity 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1839969
Disease: Reduced natural killer cell activity
Reduced natural killer cell activity 		0.100 Biomarker phenotype HPO
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers 		0.100 GeneticVariation phenotype CLINVAR
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.100 Biomarker disease HPO
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		0.400 GermlineCausalMutation phenotype ORPHANET Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. 11179007 2001
CUI: C1837174
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		0.860 CausalMutation disease CLINVAR Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). 14622600 2003
CUI: C1837174
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		0.860 GeneticVariation disease CLINVAR Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). 14622600 2003
CUI: C1837174
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		0.860 GeneticVariation disease BEFREE Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). 14622600 2003
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		0.400 GeneticVariation phenotype BEFREE Several rare human diseases have shed important light on the secretory pathway required for lymphocyte cytotoxicity.In this issue of Cell, Feldmann et al. identify mutations in Munc13-4 as a cause of familial hemophagocytic lymphohistiocytosis. 14622591 2003
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		0.400 GeneticVariation phenotype BEFREE Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). 14622600 2003
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic 		0.100 GeneticVariation disease LHGDN Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). 14622600 2003
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		0.400 Biomarker phenotype BEFREE To examine MUNC13-4 mutations and the cytotoxic function of MUNC13-4 deficient T lymphocytes in Japanese FHL patients 15466010 2004
CUI: C1837174
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		0.860 Biomarker disease GENOMICS_ENGLAND Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. 15703195 2005
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		0.400 GeneticVariation phenotype BEFREE As both STX11 and UNC13D are involved in vesicle trafficking and membrane fusion, we conclude that, besides mutations in perforin 1, defects in the endocytotic or the exocytotic pathway may be a common mechanism in FHL. 15703195 2005
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		0.400 GeneticVariation phenotype BEFREE Although mutations of perforin, MUNC13-4 and syntaxin 11 genes have been found in children with familial hemophagocytic lymphohistiocytosis (FHL), the incidence of each genetic subtype varies in different ethnic groups. 16180048 2005