MAG wt Allele - CISMeF

Preferred Label : MAG wt Allele;

NCIt synonyms : Myelin Associated Glycoprotein wt Allele; S-MAG; GMA; SIGLEC-4A; SIGLEC4A; SPG75;

NCIt definition : Human MAG wild-type allele is located in the vicinity of 19q13.12 and is approximately 22 kb in length. This allele, which encodes myelin-associated glycoprotein, is involved in axon myelination. Mutation of the gene is associated with autosomal recessive spastic paraplegia 75.;

NCI Metathesaurus CUI : CL540172;

GenBank Accession Number : M29273;

Details

Origin ID

C142151;

UMLS CUI

C4553211;

Automatic exact mappings (from CISMeF team)
- Guama virus disease [ICD-11 More detail]
- Myelin-associated glycoprotein [OMIM gene]
- Spastic paraplegia 75, autosomal recessive [OMIM Phenotype]
- myelin associated glycoprotein [ORDO Gene]
- myelin-associated glycoprotein [MeSH Descriptor]
- small Myelin-Associated glycoprotein isoform [MeSH concept]
OMIM relation
- Myelin-associated glycoprotein [OMIM gene]
See also inter- (CISMeF)
- Autosomal recessive spastic paraplegia type 75 [ORDO Disease]
- hereditary spastic paraplegia 75 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Cell Adhesion Molecule Signaling Pathway [NCIt concept]
- Nerve Growth Factor Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell-Cell Adhesion Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Protein-Carbohydrate Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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