CFTR Gene - CISMeF

Preferred Label : CFTR Gene;

NCIt synonyms : Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding Cassette Sub-Family C, Member 7) Gene;

NCIt related terms : CFTR;

CISMeF acronym : CFTR;

NCIt definition : This gene is involved in ion transport.;

Details

Origin ID

C111925;

UMLS CUI

C1413365;

Automatic exact mappings (from CISMeF team)
- CF transmembrane conductance regulator [ORDO Gene]
- CFTR gene [LOINC component]
- Cystic fibrosis transmembrane conductance regulator [OMIM gene]
- cystic fibrosis transmembrane conductance regulator [MeSH Descriptor]
HGNC gene
- CF transmembrane conductance regulator [HGNC gene]
OMIM relation
- Cystic fibrosis transmembrane conductance regulator [OMIM gene]
See also inter- (CISMeF)
- cystic fibrosis with F508del mutation in the cystic fibrosis transmembrane conductance regulator gene [Indication]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CF transmembrane conductance regulator [HGNC gene]
- CFTR gene [LOINC component]
- Cystic fibrosis transmembrane conductance regulator [OMIM gene]
gene_encodes_gene_product
- Cystic Fibrosis Transmembrane Conductance Regulator [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Congenital Bilateral Aplasia of the Vas Deferens [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

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