APTX Gene - CISMeF

Preferred Label : APTX Gene;

NCIt synonyms : APTX; Aprataxin Gene;

NCIt definition : This gene plays a role in dinucleotide polyphosphate hydrolase activity.;

Details

Origin ID

C185697;

UMLS CUI

C1423885;

Automatic exact mappings (from CISMeF team)
- APTX gene [LOINC component]
- Aprataxin [OMIM gene]
- aprataxin [ORDO Gene]
HGNC gene
- aprataxin [HGNC gene]
OMIM relation
- Aprataxin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- APTX gene [LOINC component]
- Aprataxin [OMIM gene]
- aprataxin [HGNC gene]
gene_encodes_gene_product
- Aprataxin [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Ataxia-Oculomotor Apraxia Type 1 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- Hydrolysis [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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