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
rs3744009
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
Systolic Pressure
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs3744010
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
Systolic Pressure
A
0.700
GeneticVariation
GWASCAT
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.
30578418
2019
rs150952348
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
Major Depressive Disorder
0.700
GeneticVariation
GWASCAT
The PHF21B gene is associated with major depression and modulates the stress response.
27777418
2017
rs764196809
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A
0.700
CausalMutation
CLINVAR
Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.
26342526
2016
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
rs777759523
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
T
0.700
CausalMutation
CLINVAR
First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3).
25573973
2015
rs959968589
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A
0.700
CausalMutation
CLINVAR
First report on familial hemophagocytic lymphohistiocytosis with an abnormal immunophenotype and T cell monoclonality in Korea.
25553300
2015
rs959968589
×
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
rs959968589
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A
0.700
CausalMutation
CLINVAR
Clinical features, genetics, and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in Korea: report of a nationwide survey from Korea Histiocytosis Working Party.
24935083
2015
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
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 and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection.
24825797
2014
rs766657895
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A
0.700
CausalMutation
CLINVAR
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
24139496
2014
rs959968589
×
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
rs959968589
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A
0.700
CausalMutation
CLINVAR
Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency.
24842371
2014
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
rs959968589
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A
0.700
CausalMutation
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
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
rs766657895
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A
0.700
CausalMutation
CLINVAR
A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function.
21755595
2012
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
rs764196809
×
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
rs777759523
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
T
0.700
CausalMutation
CLINVAR
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
21248318
2011
rs959968589
×
Entrez Id:
201294
Gene Symbol:
UNC13D
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A
0.700
CausalMutation
CLINVAR
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.
21931115
2011