Cystic fibrosis transmembrane conductance regulator

Preferred Label : Cystic fibrosis transmembrane conductance regulator;

Symbol : CFTR;

CISMeF acronym : CFTR;

Type : Gene;

Alternative titles and symbols : Atp-binding cassette, subfamily C, member 7; ABCC7;

Ensembl ID : ENSG00000001626;

Prefixed ID : *602421;

Details

Origin ID

602421;

UMLS CUI

C1413365;

Automatic exact mappings (from CISMeF team)
- CF transmembrane conductance regulator [ORDO Gene]
- CF transmembrane conductance regulator [HGNC gene]
- CFTR Gene [NCIt concept]
- CFTR gene [LOINC component]
- CFTR wt Allele [NCIt concept]
- Cystic Fibrosis Transmembrane Conductance Regulator [NCIt concept]
- cystic fibrosis transmembrane conductance regulator [MeSH concept]
- cystic fibrosis transmembrane conductance regulator [MeSH Descriptor]
- intracellularly ATP-gated chloride channel activity [GO term]
HGNC gene
- CF transmembrane conductance regulator [HGNC gene]
NCIt concept(s)
- CFTR Gene [NCIt concept]
- CFTR wt Allele [NCIt concept]
- Cystic Fibrosis Transmembrane Conductance Regulator [NCIt concept]
ORDO concept(s)
- CF transmembrane conductance regulator [ORDO Gene]
Phenotypes related
- Bronchiectasis with or without elevated sweat chloride 1 [OMIM Phenotype]
- Cystic fibrosis [OMIM Phenotype]
- Pancreatitis, hereditary [OMIM Phenotype]
- Vas deferens, congenital bilateral aplasia of [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CF transmembrane conductance regulator [HGNC gene]
- CFTR Gene [NCIt concept]
- CFTR gene [LOINC component]

Keyword's position in hierarchy(ies) :

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