SLC4A1 wt Allele

Preferred Label : SLC4A1 wt Allele;

NCIt synonyms : DI; EMPB3; CD233; EPB; WD; RTA1A; AE1; Solute Carrier Family 4, Anion Exchanger, Member 1 (Erythrocyte Membrane Protein Band 3, Diego Blood Group) wt Allele; AE 1; WD1; SW; FR; WR; BND3;

NCIt definition : Human SLC4A1 wild-type allele is located in the vicinity of 17q21.31 and is approximately 20 kb in length. This allele, which encodes band 3 anion transport protein, is involved in elimination of carbon dioxide from tissues. Mutations in this gene are associated with both hereditary spherocytosis and distal renal tubular acidosis. Other mutations result in novel blood group antigens.;

GenBank Accession Number : NM_000342;

Details

Origin ID

C105065;

UMLS CUI

C3538902;

Automatic exact mappings (from CISMeF team)
- AE 1 [LOINC component]
- Blood group, diego system [OMIM Phenotype]
- Blood group--froese [OMIM Phenotype]
- Blood group--swann system [OMIM Phenotype]
- Blood group--waldner type [OMIM Phenotype]
- Blood group--wright antigen [OMIM Phenotype]
- Central diabetes insipidus [ICD-11 Subcategory]
- Dentinogenesis imperfecta [ORDO Disease]
- Respiration rate [LOINC component]
- Solute carrier family 4 (anion exchanger), member 1 [OMIM Phenotype]
- Vps54 subunit of garp complex [OMIM gene]
- Wilson disease [OMIM Phenotype]
- Working diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- diabetes insipidus [MedlinePlus Topic]
- diabetes insipidus [MeSH Descriptor]
- diagnosis [MeSH Descriptor]
- electronic health records [MeSH Descriptor]
- preimplantation diagnosis [MeSH Descriptor]
- rheumatoid factor [MeSH Descriptor]
- solute carrier family 4 member 1 (Diego blood group) [ORDO Gene]
OMIM relation
- Solute carrier family 4 (anion exchanger), member 1 [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
- 17q21.31 [NCIt concept]
gene_is_element_in_pathway
- Collecting Duct Acid Secretion Pathway [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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