gap junction protein beta 1

Preferred Label : gap junction protein beta 1;

Approved symbol HGNC : GJB1;

Name synonyms HGNC : connexin 32; Charcot-Marie-Tooth neuropathy; X-linked;

Alias symbols HGNC : CX32;

Chromosome HGNC : Xq13.1;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000169562;

Details

Origin ID

HGNC:4283;

UMLS CUI

C1415076;

Automatic exact mappings (from CISMeF team)
- Connexin 32 [FMA entity]
- Gap junction protein, beta-1 [OMIM gene]
- X-linked inheritance [HPO term]
- X-linked inheritance (qualifier value) [SNOMED CT concept]
- connexin 32 [MeSH Supplementary Concept]
- connexin 32 [MeSH concept]
- gap junction protein beta 1 [ORDO Gene]
- genes, X-Linked [MeSH concept]
- genes, x-linked [MeSH Descriptor]
NCIt concept
- GJB1 Gene [NCIt concept]
OMIM gene
- Gap junction protein, beta-1 [OMIM gene]
Orphanet gene
- gap junction protein beta 1 [ORDO Gene]
See also inter- (CISMeF)
- Gap Junction beta-1 Protein [MeSH Descriptor]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- GJB1 gene [LOINC component]
- Gap junction protein, beta-1 [OMIM gene]

Keyword's position in hierarchy(ies) :

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