SBDS wt Allele

Preferred Label : SBDS wt Allele;

NCIt synonyms : CGI-97; SWDS; FLJ10917; SBDS Ribosome Maturation Factor wt Allele; SDS; Shwachman-Bodian-Diamond Syndrome Gene;

NCIt definition : Human SBDS wild-type allele is located in the vicinity of 7q11.21 and is approximately 8 kb in length. This allele, which encodes ribosome maturation protein SBDS, is involved in the formation of the ribosome. Mutation of the gene is associated with Shwachman-Bodian-Diamond syndrome.;

GenBank Accession Number : AF151855;

Détails

Origin ID

C97768;

UMLS CUI

C3273614;

OMIM relation
- Sbds ribosome maturation factor [OMIM gene]
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_associated_with_disease
- Shwachman-Diamond Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Chemotactic Process [NCIt concept]
- RNA Processing [NCIt concept]
- Translation Process [NCIt concept]
- Translational Activation [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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