TBX4 wt Allele

Preferred Label : TBX4 wt Allele;

NCIt synonyms : T-Box 4 wt Allele; SPS;

NCIt definition : Human TBX4 wild-type allele is located within 17q21-q22 and is approximately 33 kb in length. This allele, which encodes T-box transcription factor TBX4 protein, is involved in both transcriptional regulation and limb formation. Mutation of the gene is associated with small patella syndrome.;

GenBank Accession Number : AF188703;

Details

Origin ID

C106322;

UMLS CUI

C3813609;

Automatic exact mappings (from CISMeF team)
- Coxopodopatellar syndrome [ORDO Disease]
- Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension [OMIM Phenotype]
- Prenyl diphosphate synthase, subunit 1 [OMIM gene]
- Stiff person spectrum disorder [ORDO Disease]
- Stiff-person syndrome [OMIM Phenotype]
- ischiocoxopodopatellar syndrome [DO Concept]
- spermine synthase [ORDO Gene]
- sucrose-phosphate synthase activity [GO term]
OMIM relation
- T-box transcription factor 4 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q21-q22 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Limb Development [NCIt concept]
- Skeletal Development [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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