aprataxin - CISMeF

Preferred Label : aprataxin;

Approved symbol HGNC : APTX;

Alias symbols HGNC : AOA1; EOAHA; AOA; EAOH; FLJ20157;

Chromosome HGNC : 9p21.1;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000137074;

Details

Origin ID

HGNC:15984;

UMLS CUI

C1423885;

Automatic exact mappings (from CISMeF team)
- APTX protein, human [MeSH Supplementary Concept]
- Aprataxin [OMIM gene]
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [OMIM Phenotype]
- aprataxin [ORDO Gene]
NCIt concept
- APTX Gene [NCIt concept]
OMIM gene
- Aprataxin [OMIM gene]
Orphanet gene
- aprataxin [ORDO Gene]
See also inter- (CISMeF)
- Aprataxin [NCIt concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- APTX Gene [NCIt concept]
- APTX gene [LOINC component]
- Aprataxin [OMIM gene]

Keyword's position in hierarchy(ies) :

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