DisGeNET - a database of gene-disease associations

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3, C1837174

Variant: rs764196809 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs764196809

UNC13D

0.700

CausalMutation

CLINVAR

Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.

26342526

2016

dbSNP:

rs764196809

UNC13D

0.700

CausalMutation

CLINVAR

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.

21248318

2011

dbSNP:

rs764196809

UNC13D

0.700

CausalMutation

CLINVAR

Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.

20823128

2010

dbSNP:

rs764196809

UNC13D

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:

rs764196809

UNC13D

0.700

CausalMutation

CLINVAR

Single gene disorders.

19484379

2008

dbSNP:

rs764196809

UNC13D

0.700

CausalMutation

CLINVAR

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

16278825

2006