AAAS wt Allele

Preferred Label : AAAS wt Allele;

NCIt synonyms : GL003; AAASb; ALADIN; Achalasia, Adrenocortical Insufficiency, Alacrimia (Allgrove, Triple-A) Gene; Allgrove, Triple-A Gene; Aladin WD Repeat Nucleoporin wt Allele; ADRACALIN; AAA; ADRACALA; Achalasia, Adrenocortical Insufficiency, Alacrimia Gene;

NCIt definition : Human AAAS wild-type allele is located in the vicinity of 12q13.13 and is approximately 17 kb in length. This allele, which encodes aladin protein, is involved in peripheral and central nervous system development and mitotic spindle formation. Mutations in the gene are associated with achalasia-addisonianism-alacrima syndrome (Allgrove or triple-A syndrome).;

NCI Metathesaurus CUI : CL1799114;

GenBank Accession Number : AJ289841;

Details

Origin ID

C190641;

UMLS CUI

C5780959;

Automatic exact mappings (from CISMeF team)
- Amyloid beta a4 precursor protein [OMIM gene]
- Aortic aneurysm, familial abdominal, 1 [OMIM Phenotype]
- aortic aneurysm [MedlinePlus Topic]
OMIM relation
- Aladin wd repeat nucleoporin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Aladin wd repeat nucleoporin [OMIM gene]
- aladin WD repeat nucleoporin [ORDO Gene]
- aladin WD repeat nucleoporin [HGNC gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q13.13 [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Nervous System Development [NCIt concept]
- Nucleocytoplasmic Transport [NCIt concept]
- RNA Transport [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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