FOXC1 wt Allele

Preferred Label : FOXC1 wt Allele;

NCIt synonyms : IRID1; FKHL7; ARA; FREAC3; RIEG3; IGDA; FREAC-3; Forkhead Box C1 wt Allele; Forkhead, Drosophila, Homolog-Like 7 Gene; IHG1;

NCIt definition : Human FOXC1 wild-type allele is located in the vicinity of 6p25 and is approximately 4 kb in length. This allele, which encodes forkhead box protein C1, is involved in both embryogenesis and eye development. Mutations in this gene are associated with Peters anomaly, primary congenital glaucoma, autosomal dominant iridogoniodysgenesis type 1, and Axenfeld Rieger syndrome 3.;

NCIt note : Aberrant expression of the FOXC1 gene is associated with aggressive disease in 20% of acute myeloid leukemia (AML) patients. (Cancer Cell, 2015; 28: 329-342.);

NCI Metathesaurus CUI : CL514403;

GenBank Accession Number : AF048693;

Détails

Origin ID

C131543;

UMLS CUI

C4321455;

Automatic exact mappings (from CISMeF team)
- ATP binding cassette subfamily C member 6 [ORDO Gene]
- Anterior segment dysgenesis 3 [OMIM Phenotype]
- Atp-binding cassette, subfamily C, member 6 [OMIM gene]
- Axenfeld-Rieger syndrome type 3 [DO Concept]
- Axenfeld-rieger syndrome, type 3 [OMIM Phenotype]
- Forkhead box c1 [OMIM gene]
- Interstitial granulomatous dermatitis with arthritis [ORDO Disease]
- Product containing vidarabine (medicinal product) [SNOMED CT concept]
- Trna-histidine guanylyltransferase 1-like protein [OMIM gene]
- adenoviridae [MeSH Descriptor]
- forkhead box C1 [ORDO Gene]
- vidarabine [MeSH Descriptor]
OMIM relation
- Forkhead box c1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6p25 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

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