Gap junction protein, alpha-1

Preferred Label : Gap junction protein, alpha-1;

Symbol : GJA1;

CISMeF acronym : GJA1;

Type : Gene;

Alternative titles and symbols : Gap junction protein, 43-kd; Connexin 43; Heart connexin; CX43;

Ensembl ID : ENSG00000152661;

Prefixed ID : *121014;

Détails

Origin ID

121014;

UMLS CUI

C1415068;

Automatic exact mappings (from CISMeF team)
- GJA1 Gene [NCIt concept]
- GJA1 wt Allele [NCIt concept]
- Gap Junction Alpha-1 Protein [NCIt concept]
- connexin 43 [MeSH concept]
- connexin 43 [MeSH Descriptor]
- gap junction protein alpha 1 [ORDO Gene]
- gap junction protein alpha 1 [HGNC gene]
HGNC gene
- gap junction protein alpha 1 [HGNC gene]
NCIt concept(s)
- GJA1 Gene [NCIt concept]
- GJA1 wt Allele [NCIt concept]
- Gap Junction Alpha-1 Protein [NCIt concept]
ORDO concept(s)
- gap junction protein alpha 1 [ORDO Gene]
Phenotypes related
- Craniometaphyseal dysplasia, autosomal recessive [OMIM Phenotype]
- Erythrokeratodermia variabilis et progressiva 3 [OMIM Phenotype]
- Oculodentodigital dysplasia [OMIM Phenotype]
- Oculodentodigital dysplasia, autosomal recessive [OMIM Phenotype]
- Palmoplantar keratoderma and congenital alopecia 1 [OMIM Phenotype]
- Syndactyly, type III [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- GJA1 Gene [NCIt concept]
- gap junction protein alpha 1 [HGNC gene]

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