UNC13D, unc-13 homolog D, 201294

N. diseases: 48; N. variants: 26
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111365807
rs111365807
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1305855
Disease:
Body mass index
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2290769
rs2290769
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C0007222
Disease:
Cardiovascular Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3744009
rs3744009
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C0871470
Disease:
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3744010
rs3744010
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C0871470
Disease:
Systolic Pressure
A 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs150952348
rs150952348
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1269683
Disease:
Major Depressive Disorder
0.700 GeneticVariation GWASCAT The PHF21B gene is associated with major depression and modulates the stress response. 27777418 2017
dbSNP: rs764196809
rs764196809
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A 0.700 CausalMutation CLINVAR Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry. 26342526 2016
dbSNP: rs201908137
rs201908137
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
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
dbSNP: rs777759523
rs777759523
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
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
dbSNP: rs959968589
rs959968589
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
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
dbSNP: rs959968589
rs959968589
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
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
dbSNP: rs959968589
rs959968589
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
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
dbSNP: rs121434352
rs121434352
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
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
dbSNP: rs201908137
rs201908137
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A 0.700 CausalMutation CLINVAR Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age: a case report. 23669735 2014
dbSNP: rs201908137
rs201908137
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
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
dbSNP: rs766657895
rs766657895
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A 0.700 CausalMutation CLINVAR Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies. 24139496 2014
dbSNP: rs959968589
rs959968589
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
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
dbSNP: rs959968589
rs959968589
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
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
dbSNP: rs1274685768
rs1274685768
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
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
dbSNP: rs959968589
rs959968589
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
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
dbSNP: rs121434352
rs121434352
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
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
dbSNP: rs766657895
rs766657895
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
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
dbSNP: rs201908137
rs201908137
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A 0.700 CausalMutation CLINVAR Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. 21248318 2011
dbSNP: rs764196809
rs764196809
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
A 0.700 CausalMutation CLINVAR Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. 21248318 2011
dbSNP: rs777759523
rs777759523
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
T 0.700 CausalMutation CLINVAR Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. 21248318 2011
dbSNP: rs959968589
rs959968589
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
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