Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434352
rs121434352
UNC13D
A 0.700 CausalMutation CLINVAR The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3. 24470399

2014
dbSNP: rs121434352
rs121434352
UNC13D
A 0.700 CausalMutation CLINVAR Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. 21674762

2012
dbSNP: rs121434352
rs121434352
UNC13D
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: rs121434352
rs121434352
UNC13D
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: rs121434352
rs121434352
UNC13D
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