Aprataxin - CISMeF

Preferred Label : Aprataxin;

Symbol : APTX;

CISMeF acronym : APTX;

Type : Gene;

Alternative titles and symbols : FLJ20157;

Ensembl ID : ENSG00000137074;

Prefixed ID : *606350;

Details

Origin ID

606350;

UMLS CUI

C1423885;

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

Keyword's position in hierarchy(ies) :

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