IRF6 wt Allele

Preferred Label : IRF6 wt Allele;

NCIt synonyms : PIT; VWS; OFC6; LPS; Interferon Regulatory Factor 6 wt Allele; PPS;

NCIt definition : Human IRF6 wild-type allele is located within 1q32.3-q41 and is approximately 18 kb in length. This allele, which encodes interferon regulatory factor 6 protein, is involved in the modulation of transcription. Mutation of the gene is associated with van der Woude syndrome and popliteal pterygium syndrome and genetic variation is a factor in orofacial cleft type 6.;

GenBank Accession Number : AL022398;

Details

Origin ID

C75617;

UMLS CUI

C2697656;

False automatic mappings
- Pitting (qualifier value) [SNOMED CT concept]
- Van der woude syndrome 1 [OMIM Phenotype]
- pitting [SNOMED Notion]
OMIM relation
- Interferon regulatory factor 6 [OMIM gene]
See also inter- (CISMeF)
- Orofacial cleft 6, susceptibility to [OMIM Phenotype]
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]
- Maturation [NCIt concept]
- Negative Regulation of Cell Cycle [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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