HBB wt Allele - CISMeF

Preferred Label : HBB wt Allele;

NCIt synonyms : B-Globin Gene; Hemoglobin Beta wt Allele; CD113t-C; Hemoglobin--Beta Locus; Hemoglobin, Beta Gene; ECYT6; Hemoglobin-Beta Locus; Beta-Globin Gene;

NCIt definition : Human HBB wt allele is located in the vicinity of 11p15.5 and is approximately 4 kb in length. This allele, which encodes hemoglobin subunit beta protein, plays a role in the transport of oxygen to tissues of the body. Mutations in this gene are associated with beta-thalassemia.;

GenBank Accession Number : NM_000518;

Details

Origin ID

C84952;

UMLS CUI

C2827561;

Currated CISMeF NLP mapping
- beta-Globins [MeSH Descriptor]
- beta-Globins [MeSH concept]
False automatic mappings
- beta(A-T87Q) globin [MeSH concept]
- beta(A-T87Q) globin [MeSH Supplementary Concept]
OMIM relation
- Hemoglobin--beta locus [OMIM Phenotype]
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_in_chromosomal_location
- 11p15.5 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hemoglobin C Disease [NCIt concept]
- S-Beta Thalassemia [NCIt concept]
- Sickle Cell Disease [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Respiratory Process [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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