HOXA1 wt Allele

Preferred Label : HOXA1 wt Allele;

NCIt synonyms : Hox-1.6, Mouse, Homolog of Gene; Homeobox A1 wt Allele; Homeobox 1F Gene; Lab, Drosophila, Homolog of Gene; HOX1; Homeo Box A1 Gene; BSAS; HOX1F;

NCIt definition : Human HOXA1 wild-type allele is located in the vicinity of 7p15.3 and is approximately 3 kb in length. This allele, which encodes homeobox protein Hox-A1, is involved in the modulation of embryotic segment patterning. Mutation of the gene is associated with Athabaskan brainstem dysgenesis syndrome and Bosley-Salih-Alorainy syndrome.;

GenBank Accession Number : NM_153620;

Details

Origin ID

C115065;

UMLS CUI

C3890212;

Automatic exact mappings (from CISMeF team)
- Athabaskan brainstem dysgenesis syndrome [OMIM Phenotype]
- Homeobox a1 [OMIM gene]
- homeobox A1 [ORDO Gene]
- homeobox A11 [ORDO Gene]
- homeobox A13 [ORDO Gene]
OMIM relation
- Homeobox a1 [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_involved_in_pathogenesis_of_disease
- T Acute Lymphoblastic Leukemia, HOXA Dysregulated [NCIt concept]
gene_plays_role_in_process
- Angiogenic Process [NCIt concept]
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Hearing [NCIt concept]
- Pattern Formation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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