ELANE, elastase, neutrophil expressed, 1991

N. diseases: 346; N. variants: 33
Disease: Severe congenital neutropenia ×
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: C1853118
Disease:
Severe 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: C1853118
Disease:
Severe 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