ELANE Gene - CISMeF

Preferred Label : ELANE Gene;

NCIt synonyms : Elastase, Neutrophil Expressed Gene;

NCIt related terms : ELANE;

CISMeF acronym : ELANE;

NCIt definition : This gene plays a role in innate host defense.;

Details

Origin ID

C104195;

UMLS CUI

C1414369;

Automatic exact mappings (from CISMeF team)
- Elastase, neutrophil-expressed [OMIM gene]
- elastase, neutrophil expressed [ORDO Gene]
HGNC gene
- elastase, neutrophil expressed [HGNC gene]
OMIM relation
- Elastase, neutrophil-expressed [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ELA2 gene [LOINC component]
- Elastase, neutrophil-expressed [OMIM gene]
- elastase, neutrophil expressed [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Neutrophil Elastase [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- ELANE Gene Mutation [NCIt concept]
gene_mapped_to_disease
- Cyclic Neutropenia [NCIt concept]
- Severe Congenital Neutropenia Type 1, Autosomal Dominant [NCIt concept]
- Severe Congenital Neutropenia Type 2, Autosomal Dominant [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]
genetic_biomarker_related_to
- Neutrophil Elastase Measurement [NCIt concept]
- Polymorphonuclear Neutrophil Elastase Measurement [NCIt concept]

Keyword's position in hierarchy(ies) :

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