CFTR wt Allele

Preferred Label : CFTR wt Allele;

NCIt synonyms : MRP7; ABCC7; TNR-CFTR; CFTR/MRP; Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding Cassette Sub-Family C, Member 7) wt Allele; dJ760C5.1; CF; ABC35; Cystic Fibrosis Transmembrane Conductance Regulator, ATP-Binding Cassette (Sub-Family C, Member 7) Gene;

NCIt definition : Human CFTR wild-type allele is located in the vicinity of 7q31.2 and is approximately 203 kb in length. This allele, which encodes cystic fibrosis transmembrane conductance regulator protein, plays a role in the transport of chloride ions. Mutation of the gene is associated with cystic fibrosis and congenital bilateral absence of the vas deferens.;

GenBank Accession Number : M28668;

Details

Origin ID

C111926;

UMLS CUI

C3811819;

Automatic exact mappings (from CISMeF team)
- Atp-binding cassette, subfamily C, member 10 [OMIM gene]
- CF transmembrane conductance regulator [ORDO Gene]
- Cystatin 7 [OMIM gene]
- Cystic fibrosis [LOINC component]
- Cystic fibrosis [ORDO Disease]
- Cystic fibrosis [OMIM Phenotype]
- Cystic fibrosis (disorder) [SNOMED CT concept]
- Cystic fibrosis transmembrane conductance regulator [OMIM gene]
- cerebrospinal fluid [MeSH Descriptor]
- cystic fibrosis [MeSH Descriptor]
- cystic fibrosis [DO Concept]
- cystic fibrosis [MedlinePlus Topic]
- cystic fibrosis [Artificial nutrition thesaurus concept]
False automatic mappings
- Cystic fibrosis [ICD-11 Category]
OMIM relation
- Cystic fibrosis transmembrane conductance regulator [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- ABC Transporter Pathway [NCIt concept]
- CFTR Pathway [NCIt concept]
- Gastric Acid Secretion Pathway [NCIt concept]
- Vibrio cholerae Infection Pathway [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) :

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