rs111365807
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
Body mass index
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs2290769
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
Cardiovascular Diseases
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs140184929
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
Familial Hemophagocytic Lymphocytosis
0.010
GeneticVariation
BEFREE
The boy's homozygous missense variation (c.2588G > A, p.G863D ) (rs140184929 ) in UNC13D gene had been identified as being related to familial hemophagocytic lymphohistiocytosis (FHL ).
29864493
2018
rs121434352
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
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
rs121434352
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
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
rs121434352
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
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
rs121434352
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
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
rs121434352
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
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
rs121434353
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
G
0.700
CausalMutation
CLINVAR
rs121434354
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
C
0.700
CausalMutation
CLINVAR
rs1274685768
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A
0.700
GeneticVariation
CLINVAR
Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea.
23180437
2013
rs1274685768
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A
0.700
GeneticVariation
CLINVAR
Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.
17993578
2008
rs1555600214
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
T
0.700
GeneticVariation
CLINVAR
rs1555601754
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
T
0.700
CausalMutation
CLINVAR
rs1555601863
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
T
0.700
GeneticVariation
CLINVAR
rs1567816070
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
GTCCA
0.700
CausalMutation
CLINVAR
rs1567818219
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
TCGGACAAGGTA
0.700
CausalMutation
CLINVAR
rs1567818774
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A
0.700
CausalMutation
CLINVAR
rs201908137
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A
0.700
CausalMutation
CLINVAR
Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age: a case report.
23669735
2014
rs201908137
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A
0.700
CausalMutation
CLINVAR
Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis.
16825436
2006
rs201908137
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
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
rs201908137
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A
0.700
CausalMutation
CLINVAR
First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3).
25573973
2015
rs201908137
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
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
rs201908137
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
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
rs201908137
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A
0.700
CausalMutation
CLINVAR
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
21248318
2011