IGHM wt Allele

Preferred Label : IGHM wt Allele;

NCIt synonyms : Immunoglobulin Heavy Constant Mu wt Allele; VH; Constant Region of Heavy Chain of IgM Gene; MU; AGM1;

NCIt definition : Human IGHM wild-type allele is located in the vicinity of 14q32.33 and is approximately 5 kb in length. This allele, which encodes immunoglobulin heavy constant mu protein, is involved in the immunoglobulin structure and function. Mutation of the gene is associated with autosomal recessive agammaglobulinemia 1.;

NCI Metathesaurus CUI : CL1642376;

GenBank Accession Number : X14940;

Details

Origin ID

C176525;

UMLS CUI

C5444308;

Automatic exact mappings (from CISMeF team)
- Agammaglobulinemia 1, autosomal recessive [OMIM Phenotype]
- Million unit (qualifier value) [SNOMED CT concept]
- Phosphoglucomutase 3 [OMIM gene]
- Vaginal hysterectomy (procedure) [SNOMED CT concept]
- Vitreous haemorrhage [ICD-11 Category]
- phosphoglucomutase 3 [ORDO Gene]
- urinary bladder, overactive [MeSH Descriptor]
OMIM relation
- Immunoglobulin heavy chain constant region mu [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q32.33 [NCIt concept]
gene_plays_role_in_process
- Antigen Binding [NCIt concept]
- Humoral Immunity [NCIt concept]
- Immune Response Process [NCIt concept]
- Immune System Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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