Paired box gene 6

Preferred Label : Paired box gene 6;

Symbol : PAX6;

CISMeF acronym : PAX6;

Type : Gene;

Ensembl ID : ENSG00000007372;

Prefixed ID : *607108;

Details

Origin ID

607108;

UMLS CUI

C1418276;

Automatic exact mappings (from CISMeF team)
- PAX6 Gene [NCIt concept]
- PAX6 gene [LOINC component]
- paired box 6 [HGNC gene]
- paired box 6 [ORDO Gene]
HGNC gene
- paired box 6 [HGNC gene]
NCIt concept(s)
- PAX6 Gene [NCIt concept]
- PAX6 wt Allele [NCIt concept]
- Paired Box Protein Pax-6 [NCIt concept]
ORDO concept(s)
- paired box 6 [ORDO Gene]
Phenotypes related
- Aniridia 1 [OMIM Phenotype]
- Anterior segment dysgenesis 5 [OMIM Phenotype]
- Coloboma of optic nerve [OMIM Phenotype]
- Coloboma, ocular, autosomal dominant [OMIM Phenotype]
- Foveal hypoplasia 1 [OMIM Phenotype]
- Keratitis, hereditary [OMIM Phenotype]
- Optic nerve hypoplasia, bilateral [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PAX6 Gene [NCIt concept]
- PAX6 gene [LOINC component]
- paired box 6 [HGNC gene]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients