DisGeNET - a database of gene-disease associations

Neutropenia, Severe Congenital, Autosomal Dominant 1, C1859966

Variant: rs879253882 ×

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:

rs879253882

ELANE

0.700

GeneticVariation

CLINVAR

The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.

23463630

2013

dbSNP:

rs879253882

ELANE

0.700

GeneticVariation

CLINVAR

Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia.

20049848

2010

dbSNP:

rs879253882

ELANE

0.700

GeneticVariation

CLINVAR

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

10581030

1999