ABCA3 Gene - CISMeF

Preferred Label : ABCA3 Gene;

NCIt synonyms : ABCA3; ATP Binding Cassette Subfamily A Member 3 Gene;

NCIt definition : This gene plays a role in lamellar bodies biogenesis and homeostasis of pulmonary surfactant.;

Details

Origin ID

C189759;

UMLS CUI

C1412062;

Automatic exact mappings (from CISMeF team)
- ATP binding cassette subfamily A member 3 [ORDO Gene]
- Atp-binding cassette, subfamily a, member 3 [OMIM gene]
Currated CISMeF NLP mapping
- ABCA3 gene [LOINC component]
HGNC gene
- ATP binding cassette subfamily A member 3 [HGNC gene]
OMIM relation
- Atp-binding cassette, subfamily a, member 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ABCA3 gene [LOINC component]
- ATP binding cassette subfamily A member 3 [HGNC gene]
- Atp-binding cassette, subfamily a, member 3 [OMIM gene]
gene_encodes_gene_product
- Phospholipid-Transporting ATPase ABCA3 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Pulmonary Surfactant Metabolism Dysfunction-3 [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Transport [NCIt concept]
- Lung Development [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Respiratory Process [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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