DLX5 wt Allele

Preferred Label : DLX5 wt Allele;

NCIt synonyms : SHFM1D; Distal-Less Homeo Box 5 Gene; Distal-Less Homeobox 5 wt Allele; Split Hand/Foot Malformation Type 1 With Sensorineural Hearing Loss Gene;

NCIt definition : Human DLX5 wild-type allele is located in the vicinity of 7q21.3 and is approximately 5 kb in length. This allele, which encodes homeobox protein DLX-5, plays a role in transcriptional activation that is essential for osteoblast differentiation. Mutation of the gene is associated with split-hand/foot malformation 1 with sensorineural hearing loss.;

NCI Metathesaurus CUI : CL512130;

GenBank Accession Number : XM_005250185;

Details

Origin ID

C128927;

UMLS CUI

C4284580;

Automatic exact mappings (from CISMeF team)
- Split-Hand-Foot Malformation With Sensorineural Hearing Loss [MeSH Supplementary Concept]
- Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive [OMIM Phenotype]
- split hand-foot malformation 1 with sensorineural hearing loss [DO Concept]
OMIM relation
- Distal-less homeobox 5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7q21.3 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Positive Regulation of Cell Differentiation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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