TBX22 wt Allele

Preferred Label : TBX22 wt Allele;

NCIt synonyms : T-Box 22 wt Allele; TBXX; CLPA; dJ795G23.1; Cleft Palate and/or Ankyloglossia Gene; ABERS; CPX;

NCIt definition : Human TBX22 wild-type allele is located in the vicinity of Xq21.1 and is approximately 21 kb in length. This allele, which encodes T-box transcription factor TBX22 protein, plays a role in palate development. Mutation of the gene is associated with X-linked cleft palate and ankyloglossia.;

NCI Metathesaurus CUI : CL552085;

GenBank Accession Number : AL031000;

Details

Origin ID

C150337;

UMLS CUI

C4723875;

Automatic exact mappings (from CISMeF team)
- Abruzzo-erickson syndrome [OMIM Phenotype]
- Cleft palate with or without ankyloglossia, X-linked [OMIM Phenotype]
- Coproporphyrinogen oxidase [OMIM gene]
- EBP cholestenol delta-isomerase [ORDO Gene]
- coproporphyrinogen oxidase [ORDO Gene]
OMIM relation
- T-box transcription factor 22 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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