ELANE, elastase, neutrophil expressed, 1991

N. diseases: 346; N. variants: 33
Disease: Cyclic neutropenia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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 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 		T 0.800 CausalMutation CLINVAR