Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57246956
rs57246956
ELANE
A 0.800 CausalMutation CLINVAR The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. 25427142

2015
dbSNP: rs57246956
rs57246956
ELANE
A 0.800 CausalMutation CLINVAR Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis. 24523240

2014
dbSNP: rs57246956
rs57246956
ELANE
0.800 GeneticVariation UNIPROT The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630

2013
dbSNP: rs57246956
rs57246956
ELANE
A 0.800 CausalMutation CLINVAR The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630

2013
dbSNP: rs57246956
rs57246956
ELANE
0.800 GeneticVariation UNIPROT Four novel ELANE mutations in patients with congenital neutropenia. 21425445

2011
dbSNP: rs57246956
rs57246956
ELANE
0.800 GeneticVariation UNIPROT Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation. 20803142

2011
dbSNP: rs57246956
rs57246956
ELANE
0.800 GeneticVariation UNIPROT Pegfilgrastim in children with severe congenital neutropenia. 19927291

2010
dbSNP: rs57246956
rs57246956
ELANE
0.800 GeneticVariation UNIPROT Digenic mutations in severe congenital neutropenia. 20220065

2010
dbSNP: rs57246956
rs57246956
ELANE
0.800 GeneticVariation UNIPROT A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia. 18946670

2009
dbSNP: rs57246956
rs57246956
ELANE
0.800 GeneticVariation UNIPROT Ela2 mutations and clinical manifestations in familial congenital neutropenia. 19415009

2009
dbSNP: rs57246956
rs57246956
ELANE
0.800 GeneticVariation UNIPROT Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. 19036076

2009
dbSNP: rs57246956
rs57246956
ELANE
A 0.800 CausalMutation CLINVAR Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia. 17391497

2007
dbSNP: rs57246956
rs57246956
ELANE
0.800 GeneticVariation UNIPROT Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. 17436313

2007
dbSNP: rs57246956
rs57246956
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: rs57246956
rs57246956
ELANE
0.800 GeneticVariation UNIPROT Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia. 12091371

2002
dbSNP: rs57246956
rs57246956
ELANE
A 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
dbSNP: rs57246956
rs57246956
ELANE
0.800 GeneticVariation 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
dbSNP: rs57246956
rs57246956
ELANE
0.800 GeneticVariation UNIPROT Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. 11001877

2000