GJA1 wt Allele

Preferred Label : GJA1 wt Allele;

NCIt synonyms : AVSD3; CX43; CMDR; Gap Junction Protein, Alpha-Like Gene; Oculodentodigital Dysplasia (Syndactyly Type III) Gene; HLHS1; Gap Junction Protein, Alpha 1, 43kDa (Connexin 43) Gene; Gap Junction Protein, Alpha-1 Gene; GJAL; ODDD; DFNB38; Gap Junction Protein, Alpha 1, 43kDa wt Allele; HSS;

NCIt definition : Human GJA1 wild-type allele is located in the vicinity of 6q22.31 and is approximately 14 kb in length. This allele, which encodes gap junction alpha-1 protein, plays a role in the modulation of the activity of gap junctions. Mutation of the gene is associated with atrioventricular septal defect 3, autosomal recessive craniometaphyseal dysplasia, hypoplastic left heart syndrome 1, oculodentodigital dysplasia and syndactyly, type III.;

GenBank Accession Number : BC026329;

Details

Origin ID

C115171;

UMLS CUI

C3890207;

Automatic exact mappings (from CISMeF team)
- Atrioventricular septal defect 3 [OMIM Phenotype]
- Craniometaphyseal dysplasia, autosomal recessive [OMIM Phenotype]
- Gap junction protein, alpha-1 [OMIM gene]
- Hallermann-streiff syndrome [OMIM Phenotype]
- Hypoplastic left heart syndrome 1 [OMIM Phenotype]
- N-sulfoglucosamine sulfohydrolase [ORDO Gene]
- N-sulfoglucosamine sulfohydrolase [OMIM gene]
- Oculodentodigital dysplasia [OMIM Phenotype]
- autosomal recessive nonsyndromic deafness 38 [DO Concept]
- connexin 43 [MeSH Descriptor]
- deafness, autosomal recessive 38 [MeSH Supplementary Concept]
- gap junction protein alpha 1 [ORDO Gene]
- growth factor, augmenter of liver regeneration [ORDO Gene]
- olean-11,13(18)-diene-3,30-diol dihemiphthalate, disodium salt [MeSH Supplementary Concept]
- pantothenate kinase 2 [ORDO Gene]
OMIM relation
- Gap junction protein, alpha-1 [OMIM gene]
See also inter- (CISMeF)
- Deafness, autosomal recessive 38 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Arrhythmogenic Right Ventricular Cardiomyopathy Pathway [NCIt concept]
- Beta-Catenin Accumulation Pathway [NCIt concept]
- Gap Junction Assembly Pathway [NCIt concept]
- N-Cadherin Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Intercellular Communication Process [NCIt concept]
- Intercellular Transport Process [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Organogenesis [NCIt concept]
- Restricted Diffusion [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

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