DisGeNET - a database of gene-disease associations

Cyclic neutropenia, C0221023

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:

rs137854450

ELANE

0.810

GeneticVariation

BEFREE

Combined knockdown of SLPI by shRNA and transduction of ELANE p.S126L in myeloid cells led to elevated levels of ATF6, PPP1R15A and HSPA5 RNA, suggesting that normal levels of SLPI in CyN patients might protect them from the UPR induced by mutant ELANE.

26567890

2016

dbSNP:

rs137854450

ELANE

0.810

GeneticVariation

UNIPROT

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

23463630

2013

dbSNP:

rs137854450

ELANE

0.810

GeneticVariation

CLINVAR

Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.

18611981

2008

dbSNP:

rs137854450

ELANE

0.810

GeneticVariation

CLINVAR

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

14962902

2004

dbSNP:

rs137854450

ELANE

0.810

GeneticVariation

UNIPROT

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

14962902

2004

dbSNP:

rs137854450

ELANE

0.810

GeneticVariation

UNIPROT

A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia.

14673143

2004

dbSNP:

rs137854450

ELANE

0.810

GeneticVariation

UNIPROT

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.

11001877

2000

dbSNP:

rs137854450

ELANE

0.810

GeneticVariation

UNIPROT

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

10581030

1999

dbSNP:

rs137854450

ELANE

0.810

CausalMutation

CLINVAR

dbSNP:

rs137854447

ELANE

0.800

CausalMutation

CLINVAR

Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.

25703294

2016

dbSNP:

rs137854445

ELANE

0.800

GeneticVariation

UNIPROT

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

23463630

2013

dbSNP:

rs137854446

ELANE

0.800

GeneticVariation

UNIPROT

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

23463630

2013

dbSNP:

rs137854447

ELANE

0.800

CausalMutation

CLINVAR

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

23463630

2013

dbSNP:

rs137854447

ELANE

0.800

GeneticVariation

UNIPROT

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

23463630

2013

dbSNP:

rs137854448

ELANE

0.800

GeneticVariation

UNIPROT

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

23463630

2013

dbSNP:

rs137854447

ELANE

0.800

CausalMutation

CLINVAR

Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.

19036076

2009

dbSNP:

rs137854445

ELANE

0.800

GeneticVariation

UNIPROT

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

14962902

2004

dbSNP:

rs137854445

ELANE

0.800

GeneticVariation

UNIPROT

A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia.

14673143

2004

dbSNP:

rs137854446

ELANE

0.800

GeneticVariation

UNIPROT

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

14962902

2004

dbSNP:

rs137854446

ELANE

0.800

GeneticVariation

UNIPROT

A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia.

14673143

2004

dbSNP:

rs137854447

ELANE

0.800

GeneticVariation

UNIPROT

A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia.

14673143

2004

dbSNP:

rs137854447

ELANE

0.800

GeneticVariation

UNIPROT

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

14962902

2004

dbSNP:

rs137854448

ELANE

0.800

GeneticVariation

UNIPROT

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

14962902

2004

dbSNP:

rs137854448

ELANE

0.800

GeneticVariation

UNIPROT

A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia.

14673143

2004

dbSNP:

rs137854447

ELANE

0.800

CausalMutation

CLINVAR

Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.

11675333

2001