DEFB1 wt Allele

Preferred Label : DEFB1 wt Allele;

NCIt synonyms : HBD-1; DEFB101; DEFB-1; BD1; Defensin, Beta 1 wt Allele; HBD1;

NCIt definition : Human DEFB1 wild-type allele is located within 8p23.2-p23.1 and is approximately 7 kb in length. This allele, which encodes beta-defensin 1 protein, plays a role in mediating host defense responses and in innate immunity.;

GenBank Accession Number : U73945;

Details

Origin ID

C51072;

UMLS CUI

C1705664;

Currated CISMeF NLP mapping
- hBD-1(Ser35), human [MeSH concept]
OMIM relation
- Defensin, beta, 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Cystic Fibrosis [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 8: 6722860-6715525 [NCIt concept]
gene_in_chromosomal_location
- 8p23.2-p23.1 [NCIt concept]
gene_plays_role_in_process
- Immune Response Process [NCIt concept]
- Immune System Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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