RPL11 wt Allele

Preferred Label : RPL11 wt Allele;

NCIt synonyms : L11; DBA7; uL5; GIG34; Ribosomal Protein L11 wt Allele;

NCIt definition : Human RPL11 wild-type allele is located in the vicinity of 1p36.11 and is approximately 5 kb in length. This allele, which encodes 60S ribosomal protein L11, plays a role in gene translation. Mutation of the gene is associated with Diamond-Blackfan anemia 7.;

NCI Metathesaurus CUI : CL1643116;

GenBank Accession Number : L05092;

Details

Origin ID

C177127;

UMLS CUI

C5444195;

Automatic exact mappings (from CISMeF team)
- Diamond-Blackfan anemia 7 [DO Concept]
- Diamond-blackfan anemia 7 [OMIM Phenotype]
- ribosomal protein L11 [ORDO Gene]
OMIM relation
- Ribosomal protein l11 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p36.11 [NCIt concept]
gene_is_element_in_pathway
- Ribosome Assembly Pathway [NCIt concept]
- p53 Pathway for Transcriptional Regulation [NCIt concept]
gene_plays_role_in_process
- Protein Synthesis [NCIt concept]
- RNA Binding [NCIt concept]
- Translation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients