ELANE, elastase, neutrophil expressed, 1991

N. diseases: 346; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854450
rs137854450
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia
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
rs137854450
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia
0.810 GeneticVariation UNIPROT The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630 2013
dbSNP: rs137854450
rs137854450
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia
T 0.810 GeneticVariation CLINVAR Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. 18611981 2008
dbSNP: rs137854450
rs137854450
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia
T 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
rs137854450
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia
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
rs137854450
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia
0.810 GeneticVariation UNIPROT A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia. 14673143 2004
dbSNP: rs137854450
rs137854450
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia
0.810 GeneticVariation UNIPROT Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. 11001877 2000
dbSNP: rs137854450
rs137854450
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia
0.810 GeneticVariation UNIPROT Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. 10581030 1999
dbSNP: rs137854450
rs137854450
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia
T 0.810 CausalMutation CLINVAR
dbSNP: rs137854447
rs137854447
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C1859966
Disease:
Neutropenia, Severe Congenital, Autosomal Dominant 1
T 0.800 CausalMutation CLINVAR Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders. 25703294 2016
dbSNP: rs137854447
rs137854447
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia
T 0.800 CausalMutation CLINVAR Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders. 25703294 2016
dbSNP: rs57246956
rs57246956
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C1859966
Disease:
Neutropenia, Severe Congenital, Autosomal Dominant 1
A 0.800 CausalMutation CLINVAR The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. 25427142 2015
dbSNP: rs57246956
rs57246956
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C1859966
Disease:
Neutropenia, Severe Congenital, Autosomal Dominant 1
A 0.800 CausalMutation CLINVAR Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis. 24523240 2014
dbSNP: rs137854445
rs137854445
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia
0.800 GeneticVariation UNIPROT The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630 2013
dbSNP: rs137854446
rs137854446
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia
0.800 GeneticVariation UNIPROT The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630 2013
dbSNP: rs137854447
rs137854447
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C1859966
Disease:
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.800 GeneticVariation UNIPROT The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630 2013
dbSNP: rs137854447
rs137854447
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia
T 0.800 CausalMutation CLINVAR The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630 2013
dbSNP: rs137854447
rs137854447
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C1859966
Disease:
Neutropenia, Severe Congenital, Autosomal Dominant 1
T 0.800 CausalMutation CLINVAR The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630 2013
dbSNP: rs137854447
rs137854447
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia
0.800 GeneticVariation UNIPROT The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630 2013
dbSNP: rs137854448
rs137854448
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C1859966
Disease:
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.800 GeneticVariation UNIPROT The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630 2013
dbSNP: rs137854448
rs137854448
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia
0.800 GeneticVariation UNIPROT The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630 2013
dbSNP: rs137854450
rs137854450
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C1859966
Disease:
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.800 GeneticVariation UNIPROT The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630 2013
dbSNP: rs137854451
rs137854451
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C1859966
Disease:
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.800 GeneticVariation UNIPROT The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630 2013
dbSNP: rs28931611
rs28931611
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C1859966
Disease:
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.800 GeneticVariation UNIPROT The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630 2013
dbSNP: rs57246956
rs57246956
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C1859966
Disease:
Neutropenia, Severe Congenital, Autosomal Dominant 1
0.800 GeneticVariation UNIPROT The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630 2013