PHF6 wt Allele

Preferred Label : PHF6 wt Allele;

NCIt synonyms : MGC14797; BORJ; Centromere Protein 31 Gene; BFLS; CENP-31; PHD Finger Protein 6 wt Allele; KIAA1823; Borjeson-Forssman-Lehmann Syndrome Gene;

NCIt definition : Human PHF6 wild-type allele is located in the vicinity of Xq26.2 and is approximately 56 kb in length. This allele, which encodes PHD finger protein 6, is involved in the regulation of transcription. Mutation of the gene is associated with Borjeson-Forssman-Lehmann syndrome.;

NCIt note : Localization of the PHF6 gene on the X chromosome suggests that it has tumor suppressor function, as males are more susceptible to T-cell acute lymphoblastic leukemia than females. (Nature Genetics. 2010; 42:338-342.);

GenBank Accession Number : AB058726;

Details

Origin ID

C101450;

UMLS CUI

C3538790;

Automatic exact mappings (from CISMeF team)
- Bird fancier lung [ICD-11 Subcategory]
- Borjeson-Forssman-Lehmann syndrome [ORDO Disease]
- Borjeson-Forssman-Lehmann syndrome [DO Concept]
- Borjeson-Forssman-Lehmann syndrome (disorder) [SNOMED CT concept]
- Borjeson-forssman-lehmann syndrome [OMIM Phenotype]
- PHD finger protein 6 [ORDO Gene]
OMIM relation
- Phd finger protein 6 [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
- Xq26.2 [NCIt concept]
gene_plays_role_in_process
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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