aladin WD repeat nucleoporin

Preferred Label : aladin WD repeat nucleoporin;

Approved symbol HGNC : AAAS;

Name synonyms HGNC : adracalin; triple-A; Allgrove; aladin;

Chromosome HGNC : 12q13.13;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000094914;

Details

Origin ID

HGNC:13666;

UMLS CUI

C1422135;

Automatic exact mappings (from CISMeF team)
- Achalasia-addisonianism-alacrima syndrome [OMIM Phenotype]
- Aladin [NCIt concept]
- aladin WD repeat nucleoporin [ORDO Gene]
Currated CISMeF NLP mapping
- AAAS Gene [NCIt concept]
- Aladin wd repeat nucleoporin [OMIM gene]
NCIt concept
- AAAS Gene [NCIt concept]
OMIM gene
- Aladin wd repeat nucleoporin [OMIM gene]
Orphanet gene
- aladin WD repeat nucleoporin [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- AAAS Gene [NCIt concept]
- Aladin wd repeat nucleoporin [OMIM gene]
Validated automatic mappings to BTNT
- AAAS wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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