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: rs137854447
rs137854447
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia 		T 0.800 CausalMutation CLINVAR Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders. 25703294 2016
dbSNP: rs137854447
rs137854447
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia 		T 0.800 CausalMutation CLINVAR The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630 2013
dbSNP: rs137854447
rs137854447
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: rs137854447
rs137854447
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia 		T 0.800 CausalMutation CLINVAR Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. 19036076 2009
dbSNP: rs137854447
rs137854447
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: rs137854447
rs137854447
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: rs137854447
rs137854447
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia 		T 0.800 CausalMutation CLINVAR Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. 11675333 2001
dbSNP: rs137854447
rs137854447
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: rs137854447
rs137854447
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: rs137854447
rs137854447
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0221023
Disease:
Cyclic neutropenia 		T 0.800 CausalMutation CLINVAR Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. 10581030 1999