DSG2 wt Allele

Preferred Label : DSG2 wt Allele;

NCIt synonyms : Human Desmoglein Colon Gene; CDHF5; Cadherin Family Member 5 Gene; HDGC; Desmoglein 2 wt Allele;

NCIt definition : Human DSG2 wild-type allele is located in the vicinity of 18q12.1 and is approximately 51 kb in length. This allele, which encodes desmoglein-2 protein, is involved in desmosome formation. Mutations in the gene are associated with dialated cardiomyopathy 1BB and arrhythmogenic right ventricular dysplasia 10.;

NCI Metathesaurus CUI : CL1643469;

GenBank Accession Number : Z26317;

Details

Origin ID

C177648;

UMLS CUI

C5443971;

Automatic exact mappings (from CISMeF team)
- Desmoglein 2 [OMIM gene]
- Diffuse gastric and lobular breast cancer syndrome [OMIM Phenotype]
- Hereditary diffuse gastric cancer [ORDO Disease]
- desmoglein 2 [ORDO Gene]
OMIM relation
- Desmoglein 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Arrhythmogenic Right Ventricular Cardiomyopathy Pathway [NCIt concept]
gene_plays_role_in_process
- Blood Circulation [NCIt concept]
- Cell-Cell Adhesion Process [NCIt concept]
- Keratinization [NCIt concept]

Keyword's position in hierarchy(ies) :

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