GRHL2 wt Allele

Preferred Label : GRHL2 wt Allele;

NCIt synonyms : Deafness, Autosomal Dominant 28 Gene; PPCD4; Grainyhead Like Transcription Factor 2 wt Allele; DFNA28; Grainyhead-Like 2 Gene; Grainyhead, Drosophila, Homolog of, 2 Gene; ECTDS; AI224578; FLJ13782; Grainyhead-Like 2 (Drosophila) Gene; TFCP2L3; AA404325; BOM; BF675485; AA834945; FLJ38245;

NCIt definition : Human GRHL2 wild-type allele is located in the vicinity of 8q22.3 and is approximately 186 kb in length. This allele, which encodes grainyhead-like protein 2 homolog protein, is involved in development and maintenance of epithelial tissues and neurulation. Mutation of the gene is associated with non-syndromic sensorineural deafness autosomal dominant type 28.;

NCI Metathesaurus CUI : CL970821;

GenBank Accession Number : AK023844;

Details

Origin ID

C162373;

UMLS CUI

C5202587;

Automatic exact mappings (from CISMeF team)
- Deafness, autosomal dominant 28 [OMIM Phenotype]
- Ectodermal dysplasia/short stature syndrome [OMIM Phenotype]
- Grainyhead-like 2 [OMIM gene]
- autosomal dominant nonsyndromic deafness 28 [DO Concept]
- deafness, autosomal dominant 28 [MeSH Supplementary Concept]
- dilatation, pathologic [MeSH Descriptor]
- grainyhead like transcription factor 2 [ORDO Gene]
OMIM relation
- Grainyhead-like 2 [OMIM gene]
See also inter- (CISMeF)
- Corneal dystrophy, posterior polymorphous, 4 [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]
- Embryogenesis [NCIt concept]
- Histogenic Process [NCIt concept]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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