ELANE wt Allele

Preferred Label : ELANE wt Allele;

NCIt synonyms : GE; PMN-E; HLE; Elastase, Neutrophil Expressed wt Allele; SCN1; NE; ELA2; HNE; Elastase, Leukocyte Gene; Elastase, Neutrophil Gene; Elastase 2, Neutrophil Gene; Protease, Serine, Bone Marrow Gene; Elastase, Neutrophil-Expressed Gene;

NCIt definition : Human ELANE wild-type allele is located in the vicinity of 19p13.3 and is approximately 4 kb in length. This allele, which encodes neutrophil elastase protein, is involved in innate host defense and tissue remodeling.;

GenBank Accession Number : NM_001972;

Détails

Origin ID

C104196;

UMLS CUI

C3538705;

Automatic exact mappings (from CISMeF team)
- Blood group, gerbich system [OMIM Phenotype]
- Elastase, neutrophil-expressed [OMIM gene]
- Elastase.leukocyte [LOINC component]
- Gastroenteritis or colitis without specification of infectious agent [ICD-11 Category]
- Neutropenia, severe congenital, 1, autosomal dominant [OMIM Phenotype]
- No evidence of (contextual qualifier) (qualifier value) [SNOMED CT concept]
- crohn disease [MeSH Descriptor]
- elastase, neutrophil expressed [ORDO Gene]
- ganglionic eminence [UBERON concept]
- genetics [MeSH Descriptor]
- glycophorin C (Gerbich blood group) [ORDO Gene]
- leukocyte elastase [MeSH Descriptor]
- sodium voltage-gated channel alpha subunit 1 [ORDO Gene]
OMIM relation
- Elastase, neutrophil-expressed [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]

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