HBB Gene - CISMeF

Preferred Label : HBB Gene;

NCIt synonyms : HBB; Hemoglobin Beta Gene;

CISMeF acronym : HBB;

NCIt definition : This gene plays a role in the transport of oxygen to tissues of the adult body.;

Details

Origin ID

C84951;

UMLS CUI

C1415481;

HGNC gene
- hemoglobin subunit beta [HGNC gene]
OMIM relation
- Hemoglobin--beta locus [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- HBB gene [LOINC component]
- Hemoglobin--beta locus [OMIM Phenotype]
- Hemoglobin--beta locus [OMIM gene]
- hemoglobin subunit beta [ORDO Gene]
- hemoglobin subunit beta [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
- Hemoglobin Subunit Beta [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- HBB Gene Mutation [NCIt concept]
- HBB NM_000518.4:c.20A>T [NCIt concept]
- HBB NM_000518.4:c.364G>A [NCIt concept]
- HBB NM_000518.4:c.364G>C [NCIt concept]
- HBB NM_000518.5:c.19G>A [NCIt concept]
- HBB NM_000518.5:c.79G>A [NCIt concept]
- HBB NP_000509.1:p.E122K [NCIt concept]
- HBB NP_000509.1:p.E122Q [NCIt concept]
- HBB NP_000509.1:p.E27K [NCIt concept]
- HBB NP_000509.1:p.E7K [NCIt concept]
- HBB NP_000509.1:p.E7V [NCIt concept]
- HBB Protein Variant [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hemoglobin C Disease [NCIt concept]
- S-Beta Thalassemia [NCIt concept]
- Sickle Cell Disease [NCIt concept]
gene_mapped_to_disease
- Beta Thalassemia [NCIt concept]
- Beta Thalassemia Major [NCIt concept]
- Beta Thalassemia Plus Structural Variants [NCIt concept]
- Delta-Beta Thalassemia [NCIt concept]
- Hemoglobin C Disease [NCIt concept]
- Hemoglobin D Disease [NCIt concept]
- Hemoglobin E Disease [NCIt concept]
- Hemoglobin Lepore Syndrome [NCIt concept]
- S-Beta Thalassemia [NCIt concept]
- Sickle Beta 0 Thalassemia [NCIt concept]
- Sickle Beta Plus Thalassemia [NCIt concept]
- Sickle Beta Thalassemia [NCIt concept]
- Sickle Cell Disease [NCIt concept]
- Sickle Cell Trait [NCIt concept]
- Sickle Cell-Hemoglobin C Disease [NCIt concept]
- Sickle Cell-Hemoglobin D Disease [NCIt concept]
- Sickle Cell-Hemoglobin E Disease [NCIt concept]
- Sickle Cell-SS Disease [NCIt concept]
- Sickle Cell-Thalassemia [NCIt concept]
- Transfusion Dependent Beta Thalassemia [NCIt concept]
- Vaso-Occlusive Crisis [NCIt concept]
- Vaso-Occlusive Crisis in Sickle Cell-Hemoglobin C Disease [NCIt concept]
- Vaso-Occlusive Crisis in Sickle Cell-SS Disease [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Respiratory Process [NCIt concept]
- Transport Process [NCIt concept]
genetic_biomarker_related_to
- Hemoglobin A1 [NCIt concept]
- Hemoglobin Beta Genotype Finding [NCIt concept]
- Hemoglobin Beta Heterozygous Hemoglobin E Plus Insufficiency Genotype [NCIt concept]
- Hemoglobin Beta Heterozygous Hemoglobin E Plus Null Genotype [NCIt concept]
- Hemoglobin Beta Heterozygous Insufficiency Genotype [NCIt concept]
- Hemoglobin Beta Heterozygous Insufficiency Plus Null Genotype [NCIt concept]
- Hemoglobin Beta Heterozygous Null Genotype [NCIt concept]
- Hemoglobin Beta Homozygous Insufficient Genotype [NCIt concept]
- Hemoglobin Beta Homozygous Null Genotype [NCIt concept]
- Hemoglobin Beta Normal Genotype [NCIt concept]
- Hemoglobin H [NCIt concept]
- Hemoglobin S/O-Arab Heterozygote [NCIt concept]
- Homozygous Hemoglobin C or E, Non-Disease [NCIt concept]
- S-Nitroso-Hemoglobin [NCIt concept]

Keyword's position in hierarchy(ies) :

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