Gap junction protein, beta-2

Preferred Label : Gap junction protein, beta-2;

Symbol : GJB2;

CISMeF acronym : GJB2;

Type : Gene;

Alternative titles and symbols : Gap junction protein, 26-kd; Connexin 26; CX26;

Ensembl ID : ENSG00000165474;

Prefixed ID : *121011;

Details

Origin ID

121011;

UMLS CUI

C1415077;

Automatic exact mappings (from CISMeF team)
- Connexin 26 [FMA entity]
- Connexin 26 [MeSH Descriptor]
- GJB2 Gene [NCIt concept]
- GJB2 gene [LOINC component]
- GJB2 wt Allele [NCIt concept]
- Gap Junction Beta-2 Protein [NCIt concept]
- Gap Junction beta-2 protein [MeSH concept]
- connexin 26 [MeSH concept]
- gap junction protein beta 2 [ORDO Gene]
- gap junction protein beta 2 [HGNC gene]
HGNC gene
- gap junction protein beta 2 [HGNC gene]
NCIt concept(s)
- GJB2 Gene [NCIt concept]
- GJB2 wt Allele [NCIt concept]
- Gap Junction Beta-2 Protein [NCIt concept]
ORDO concept(s)
- gap junction protein beta 2 [ORDO Gene]
Phenotypes related
- Bart-pumphrey syndrome [OMIM Phenotype]
- Deafness, autosomal dominant 3a [OMIM Phenotype]
- Deafness, autosomal recessive 1a [OMIM Phenotype]
- Ichthyosis, hystrix-like, with deafness [OMIM Phenotype]
- Keratitis-ichthyosis-deafness syndrome, autosomal dominant [OMIM Phenotype]
- Keratoderma, palmoplantar, with deafness [OMIM Phenotype]
- Vohwinkel syndrome [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- GJB2 Gene [NCIt concept]
- GJB2 gene [LOINC component]
- gap junction protein beta 2 [HGNC gene]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients