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: rs387906553
rs387906553
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C1332977
Disease:
Childhood Leukemia 		0.010 GeneticVariation BEFREE Collectively, these data suggest that expression of V72M NE is not sufficient to induce an SCN phenotype or leukemia in mice. 12384420 2002
dbSNP: rs387906553
rs387906553
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0340970
Disease:
Congenital neutropenia 		0.020 GeneticVariation BEFREE Three cases of familial SCN (P13L, R52P, and S97L), 2 of familial CN (W212stop and P110L), and 1 of sporadic SCN (V72M) were shown to have heterozygous mutations in the Ela2 gene. 19415009 2009
dbSNP: rs387906553
rs387906553
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0340970
Disease:
Congenital neutropenia 		0.020 GeneticVariation BEFREE Collectively, these data suggest that expression of V72M NE is not sufficient to induce an SCN phenotype or leukemia in mice. 12384420 2002
dbSNP: rs137854450
rs137854450
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0340970
Disease:
Congenital neutropenia 		0.010 GeneticVariation BEFREE We investigated CN-specific p.C71R and p.V174_C181del (NP_001963.1) and CN/CyN-shared p.S126L (NP_001963.1) ELANE mutants. 26567890 2016
dbSNP: rs28931611
rs28931611
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0340970
Disease:
Congenital neutropenia 		0.010 GeneticVariation BEFREE We investigated CN-specific p.C71R and p.V174_C181del (NP_001963.1) and CN/CyN-shared p.S126L (NP_001963.1) ELANE mutants. 26567890 2016
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 		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 		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 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 CausalMutation CLINVAR
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 Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. 10581030 1999
dbSNP: rs137854445
rs137854445
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia 		0.800 GeneticVariation UNIPROT Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. 10581030 1999
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: rs137854445
rs137854445
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia 		A 0.800 CausalMutation CLINVAR
dbSNP: rs137854445
rs137854445
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia 		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: rs137854445
rs137854445
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia 		0.800 GeneticVariation UNIPROT A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia. 14673143 2004
dbSNP: rs137854445
rs137854445
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia 		0.800 GeneticVariation UNIPROT Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. 11001877 2000
dbSNP: rs137854446
rs137854446
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia 		0.800 GeneticVariation UNIPROT Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. 10581030 1999
dbSNP: rs137854446
rs137854446
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia 		0.800 GeneticVariation UNIPROT Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. 11001877 2000
dbSNP: rs137854446
rs137854446
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia 		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
rs137854446
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia 		0.800 GeneticVariation UNIPROT A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia. 14673143 2004
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