ADGRG6 wt Allele

Preferred Label : ADGRG6 wt Allele;

NCIt synonyms : GPR126; DREG; LCCS9; PR126; FLJ14937; APG1; VIGR; PS1TP2;

NCIt definition : Human ADGRG6 wild-type allele is located in the vicinity of 6q24.2 and is approximately 144 kb in length. This allele, which encodes adhesion G-protein coupled receptor G6 protein, is involved in axon myelination, heart development and stature. Mutation of the gene is associated with lethal congenital contracture syndrome type 9.;

NCI Metathesaurus CUI : CL554199;

GenBank Accession Number : AK027843;

Details

Origin ID

C153051;

UMLS CUI

C4724063;

Automatic exact mappings (from CISMeF team)
- Adhesion g protein-coupled receptor g6 [OMIM gene]
- Heat-shock protein family a (hsp70) member 4-like protein [OMIM gene]
- Lethal congenital contracture syndrome 9 [OMIM Phenotype]
- dreams [MeSH Descriptor]
OMIM relation
- Adhesion g protein-coupled receptor g6 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Organogenesis [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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