ARHGEF10 wt Allele

Preferred Label : ARHGEF10 wt Allele;

NCIt synonyms : SNCV; KIAA0294; Rho Guanine Nucleotide Exchange Factor (GEF) 10 Gene; Rho Guanine Nucleotide Exchange Factor 10 wt Allele; GEF10;

NCIt definition : Human ARHGEF10 wild-type allele is located in the vicinity of 8p23.3 and is approximately 135 kb in length. This allele, which encodes Rho guanine nucleotide exchange factor 10 protein, is involved in the regulation of GTPase-mediated signaling. Mutations in the gene are associated with autosomal dominant slowed nerve conduction velocity.;

NCI Metathesaurus CUI : CL545399;

GenBank Accession Number : AF009205;

Details

Origin ID

C147566;

UMLS CUI

C4553509;

Automatic exact mappings (from CISMeF team)
- Rho guanine nucleotide exchange factor 10 [ORDO Gene]
- Rho guanine nucleotide exchange factor 10 [OMIM gene]
- Slowed nerve conduction velocity, autosomal dominant [OMIM Phenotype]
OMIM relation
- Rho guanine nucleotide exchange factor 10 [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]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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