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: 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: rs121434352
rs121434352
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
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
dbSNP: rs121434352
rs121434352
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
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
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: rs121434352
rs121434352
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
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
dbSNP: rs121434353
rs121434353
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121434354
rs121434354
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		C 0.700 CausalMutation CLINVAR
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: rs1274685768
rs1274685768
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		A 0.700 GeneticVariation CLINVAR Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis. 17993578 2008
dbSNP: rs140184929
rs140184929
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C0272199
Disease:
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
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: rs1555600214
rs1555600214
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1839969
Disease:
Reduced natural killer cell activity 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555600214
rs1555600214
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555600214
rs1555600214
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1844662
Disease:
Unexplained fevers 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555600214
rs1555600214
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C0876991
Disease:
Histiocytosis haematophagic 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555600214
rs1555600214
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C0019209
Disease:
Hepatomegaly 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555601754
rs1555601754
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555601863
rs1555601863
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C0876991
Disease:
Histiocytosis haematophagic 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555601863
rs1555601863
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C0019209
Disease:
Hepatomegaly 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555601863
rs1555601863
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1844662
Disease:
Unexplained fevers 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555601863
rs1555601863
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555601863
rs1555601863
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1839969
Disease:
Reduced natural killer cell activity 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1567816070
rs1567816070
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		GTCCA 0.700 CausalMutation CLINVAR
dbSNP: rs1567818219
rs1567818219
Entrez Id: 201294
Gene Symbol: UNC13D
UNC13D
CUI: C1837174
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 		TCGGACAAGGTA 0.700 CausalMutation CLINVAR