ELANE, elastase, neutrophil expressed, 1991

N. diseases: 346; N. variants: 33
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879253882
rs879253882
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C1859966
Disease:
Neutropenia, Severe Congenital, Autosomal Dominant 1 		A 0.700 GeneticVariation CLINVAR The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630 2013
dbSNP: rs879253882
rs879253882
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C1859966
Disease:
Neutropenia, Severe Congenital, Autosomal Dominant 1 		A 0.700 GeneticVariation CLINVAR Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia. 20049848 2010
dbSNP: rs879253882
rs879253882
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C1859966
Disease:
Neutropenia, Severe Congenital, Autosomal Dominant 1 		A 0.700 GeneticVariation CLINVAR Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. 10581030 1999