DisGeNET - a database of gene-disease associations

Cyclic neutropenia, C0221023

Variant: rs137854446 ×

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:

rs137854446

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

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:

rs137854446

ELANE

0.800

GeneticVariation

UNIPROT

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

11001877

2000

dbSNP:

rs137854446

ELANE

0.800

GeneticVariation

UNIPROT

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

10581030

1999

dbSNP:

rs137854446

ELANE

0.800

CausalMutation

CLINVAR