CDH23 wt Allele

Preferred Label : CDH23 wt Allele;

NCIt synonyms : KIAA1812; RP11-472K8.4; MGC102761; UNQ1894/PRO4340; DFNB12; KIAA1774; FLJ36499; DKFZp434P2350; FLJ00233; USH1D; CDHR23; Cadherin-Related 23 wt Allele;

NCIt definition : Human CDH23 wild-type allele is located in the vicinity of 10q22.1 and is approximately 419 kb in length. This allele, which encodes cadherin-23 protein, plays a role in both cell adhesion and stereocilia organization. Mutation of the gene is associated with deafness autosomal recessive type 12 and Usher syndrome types 1D, digenic 1D/F and 3.;

GenBank Accession Number : AY010111;

Details

Origin ID

C101754;

UMLS CUI

C3541879;

Automatic exact mappings (from CISMeF team)
- Cadherin 23 [OMIM gene]
- Deafness, autosomal recessive 12 [OMIM Phenotype]
- Usher syndrome type 1D [DO Concept]
- Usher syndrome, type id [OMIM Phenotype]
- autosomal recessive nonsyndromic deafness 12 [DO Concept]
- cadherin related 23 [ORDO Gene]
- deafness, autosomal recessive 12 [MeSH Supplementary Concept]
OMIM relation
- Cadherin 23 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Cell Adhesion Process [NCIt concept]
- Cell-Cell Adhesion Process [NCIt concept]
- Hearing [NCIt concept]
- Ligand Binding [NCIt concept]
- Sight [NCIt concept]

Keyword's position in hierarchy(ies) :

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