Gap junction protein, beta-6

Preferred Label : Gap junction protein, beta-6;

Symbol : GJB6;

CISMeF acronym : GJB6;

Type : Gene;

Alternative titles and symbols : Connexin 30; CX30;

Ensembl ID : ENSG00000121742;

Prefixed ID : *604418;

Détails

Origin ID

604418;

UMLS CUI

C1415081;

Automatic exact mappings (from CISMeF team)
- Connexin 30 [MeSH Descriptor]
- GJB6 gene [LOINC component]
- gap junction protein beta 6 [ORDO Gene]
- gap junction protein beta 6 [HGNC gene]
HGNC gene
- gap junction protein beta 6 [HGNC gene]
ORDO concept(s)
- gap junction protein beta 6 [ORDO Gene]
Phenotypes related
- Clouston syndrome [OMIM Phenotype]
- Deafness, autosomal dominant 3b [OMIM Phenotype]
- Deafness, autosomal recessive 1a [OMIM Phenotype]
- Deafness, autosomal recessive 1b [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- GJB6 gene [LOINC component]
- gap junction protein beta 6 [HGNC gene]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients