Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
ELA2
elastase 2 leukocyte elastase |
| gptkbp:associatedWith |
cyclic neutropenia
severe congenital neutropenia |
| gptkbp:encodes |
neutrophil elastase
|
| gptkbp:Entrez_Gene_ID |
1991
ENSG00000197561 |
| gptkbp:expressedIn |
neutrophils
|
| gptkbp:HGNC_ID |
HGNC:3309
|
| https://www.w3.org/2000/01/rdf-schema#label |
ELANE
|
| gptkbp:locatedOnChromosome |
gptkb:19p13.3
|
| gptkbp:mutationAssociatedWith |
neutropenia
|
| gptkbp:OMIM |
130130
|
| gptkbp:product |
elastase, neutrophil expressed
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
P08246
|
| gptkbp:bfsParent |
gptkb:elastase
gptkb:P08247 |
| gptkbp:bfsLayer |
7
|