UNC13D, unc-13 homolog D, 201294

N. diseases: 48; N. variants: 26
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434352
rs121434352
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		A 0.700 CausalMutation CLINVAR Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes. 21152410 2010
dbSNP: rs764196809
rs764196809
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		A 0.700 CausalMutation CLINVAR Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. 20823128 2010
dbSNP: rs777759523
rs777759523
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		T 0.700 CausalMutation CLINVAR Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity. 19704116 2009
dbSNP: rs1274685768
rs1274685768
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		A 0.700 GeneticVariation CLINVAR Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis. 17993578 2008
dbSNP: rs201908137
rs201908137
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		A 0.700 CausalMutation CLINVAR Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3. 18492689 2008
dbSNP: rs764196809
rs764196809
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		A 0.700 CausalMutation CLINVAR Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3. 18492689 2008
dbSNP: rs764196809
rs764196809
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		A 0.700 CausalMutation CLINVAR Single gene disorders. 19484379 2008
dbSNP: rs777759523
rs777759523
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		T 0.700 CausalMutation CLINVAR Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3. 18492689 2008
dbSNP: rs121434352
rs121434352
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		A 0.700 CausalMutation CLINVAR Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 16278825 2006
dbSNP: rs201908137
rs201908137
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		A 0.700 CausalMutation CLINVAR Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. 16825436 2006
dbSNP: rs764196809
rs764196809
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		A 0.700 CausalMutation CLINVAR Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 16278825 2006
dbSNP: rs777759523
rs777759523
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		T 0.700 CausalMutation CLINVAR Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 16278825 2006
dbSNP: rs121434352
rs121434352
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		A 0.700 CausalMutation CLINVAR Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). 14622600 2003
dbSNP: rs201908137
rs201908137
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		A 0.700 CausalMutation CLINVAR Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). 14622600 2003
dbSNP: rs754882266
rs754882266
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		T 0.700 GeneticVariation CLINVAR Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). 14622600 2003
dbSNP: rs777759523
rs777759523
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		T 0.700 CausalMutation CLINVAR Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). 14622600 2003
dbSNP: rs121434353
rs121434353
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121434354
rs121434354
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555600214
rs1555600214
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1839969
Disease:
Reduced natural killer cell activity 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555600214
rs1555600214
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555600214
rs1555600214
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1844662
Disease:
Unexplained fevers 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555600214
rs1555600214
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C0876991
Disease:
Histiocytosis haematophagic 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555600214
rs1555600214
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C0019209
Disease:
Hepatomegaly 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555601754
rs1555601754
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555601863
rs1555601863
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C0876991
Disease:
Histiocytosis haematophagic 		T 0.700 GeneticVariation CLINVAR