Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854448
rs137854448
ELANE
0.800 GeneticVariation UNIPROT The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630

2013
dbSNP: rs137854448
rs137854448
ELANE
0.800 GeneticVariation UNIPROT Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation. 20803142

2011
dbSNP: rs137854448
rs137854448
ELANE
0.800 GeneticVariation UNIPROT Four novel ELANE mutations in patients with congenital neutropenia. 21425445

2011
dbSNP: rs137854448
rs137854448
ELANE
0.800 GeneticVariation UNIPROT Pegfilgrastim in children with severe congenital neutropenia. 19927291

2010
dbSNP: rs137854448
rs137854448
ELANE
0.800 GeneticVariation UNIPROT Digenic mutations in severe congenital neutropenia. 20220065

2010
dbSNP: rs137854448
rs137854448
ELANE
0.800 GeneticVariation UNIPROT A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia. 18946670

2009
dbSNP: rs137854448
rs137854448
ELANE
0.800 GeneticVariation UNIPROT Ela2 mutations and clinical manifestations in familial congenital neutropenia. 19415009

2009
dbSNP: rs137854448
rs137854448
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: rs137854448
rs137854448
ELANE
0.800 GeneticVariation UNIPROT Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. 17436313

2007
dbSNP: rs137854448
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
rs137854448
ELANE
0.800 GeneticVariation UNIPROT Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia. 12091371

2002
dbSNP: rs137854448
rs137854448
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: rs137854448
rs137854448
ELANE
0.800 GeneticVariation UNIPROT Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. 11001877

2000
dbSNP: rs137854448
rs137854448
ELANE
T 0.800 GeneticVariation CLINVAR

dbSNP: rs137854448
rs137854448
ELANE
T 0.800 CausalMutation CLINVAR