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: rs1555710005
rs1555710005
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia 		A 0.700 CausalMutation CLINVAR The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630 2013
dbSNP: rs1555710005
rs1555710005
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia 		A 0.700 CausalMutation CLINVAR Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. 10581030 1999