Preferred Label : PAX6 wt Allele;
NCIt synonyms : Aniridia, Keratitis Gene; WAGR; Paired Box Gene 6 (Aniridia, Keratitis) Gene; MGDA; D11S812E; AN2; AN; MGC17209; Paired Box 6 wt Allele;
NCIt definition : Human PAX6 wild-type allele is located in the vicinity of 11p13 and is approximately
29 kb in length. This allele, which encodes paired box protein Pax-6, plays a role
in the mediation of transcription. Mutations in the gene are associated with a number
of congenital disorders of the eye.;
NCIt note : Mutations in the PAX6 gene are a cause of aniridia type II, Peters anomaly, ectopia
pupillae, foveal hypoplasia, autosomal dominant keratitis, ocular coloboma, coloboma
of optic nerve, and bilateral optic nerve hypoplasia. (UniProt);
GenBank Accession Number : AY707088;
Origin ID : C75889;
UMLS CUI : C2698687;
Currated CISMeF NLP mapping
- False automatic mappings
- OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
