×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
CausalMutation
disease
CLINVAR
Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.
25703294
2016
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
CausalMutation
disease
CLINVAR
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.
25427142
2015
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
CausalMutation
disease
CLINVAR
Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.
24523240
2014
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
GeneticVariation
disease
CLINVAR
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
23463630
2013
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
CausalMutation
disease
CLINVAR
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
23463630
2013
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
GeneticVariation
disease
UNIPROT
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
23463630
2013
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
GeneticVariation
disease
UNIPROT
Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.
20803142
2011
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
GeneticVariation
disease
UNIPROT
Four novel ELANE mutations in patients with congenital neutropenia.
21425445
2011
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
GeneticVariation
disease
UNIPROT
Digenic mutations in severe congenital neutropenia.
20220065
2010
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
GeneticVariation
disease
UNIPROT
Pegfilgrastim in children with severe congenital neutropenia.
19927291
2010
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
GeneticVariation
disease
CLINVAR
Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia.
20049848
2010
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
CausalMutation
disease
CLINVAR
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
19036076
2009
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
GeneticVariation
disease
UNIPROT
Ela2 mutations and clinical manifestations in familial congenital neutropenia.
19415009
2009
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
GeneticVariation
disease
UNIPROT
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
19036076
2009
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
GeneticVariation
disease
UNIPROT
A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia.
18946670
2009
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
GeneticVariation
disease
CLINVAR
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
18611981
2008
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
GeneticVariation
disease
UNIPROT
Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.
17436313
2007
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
CausalMutation
disease
CLINVAR
Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia.
17391497
2007
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
CausalMutation
disease
CLINVAR
Neutrophil elastase in cyclic and severe congenital neutropenia.
17053055
2007
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
GeneticVariation
disease
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
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
GeneticVariation
disease
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
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
GeneticVariation
disease
UNIPROT
Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia.
12091371
2002
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
Biomarker
disease
GENOMICS_ENGLAND
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
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
CausalMutation
disease
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
×
Entrez Id:
1991
Gene Symbol:
ELANE
ELANE
0.700
GeneticVariation
disease
UNIPROT
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