Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201908137
rs201908137
UNC13D
A 0.700 CausalMutation CLINVAR First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3). 25573973

2015
dbSNP: rs201908137
rs201908137
UNC13D
A 0.700 CausalMutation CLINVAR Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age: a case report. 23669735

2014
dbSNP: rs201908137
rs201908137
UNC13D
A 0.700 CausalMutation CLINVAR Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection. 24825797

2014
dbSNP: rs201908137
rs201908137
UNC13D
A 0.700 CausalMutation CLINVAR Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. 21248318

2011
dbSNP: rs201908137
rs201908137
UNC13D
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: rs201908137
rs201908137
UNC13D
A 0.700 CausalMutation CLINVAR Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. 16825436

2006
dbSNP: rs201908137
rs201908137
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