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: rs797045009
rs797045009
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C1859966
Disease:
Neutropenia, Severe Congenital, Autosomal Dominant 1 		A 0.700 CausalMutation CLINVAR Neutrophil elastase in cyclic and severe congenital neutropenia. 17053055 2007