Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777759523
rs777759523
UNC13D
T 0.700 CausalMutation CLINVAR First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3). 25573973

2015
dbSNP: rs777759523
rs777759523
UNC13D
T 0.700 CausalMutation CLINVAR Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. 21248318

2011
dbSNP: rs777759523
rs777759523
UNC13D
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: rs777759523
rs777759523
UNC13D
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: rs777759523
rs777759523
UNC13D
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: rs777759523
rs777759523
UNC13D
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