GARS1 wt Allele

Preferred Label : GARS1 wt Allele;

NCIt synonyms : Glycyl-tRNA Synthetase 1 wt Allele; HMN5; Charcot-Marie-Tooth Neuropathy, Neuronal Type, D Gene; DSMAV; SMAD1; GlyRS; CMT2D; Charcot-Marie-Tooth Neuropathy 2D Gene; Glycyl-tRNA Synthetase Gene; GARS; SMAJI; Glycine tRNA Ligase Gene;

NCIt definition : Human GARS1 wild-type allele is located in the vicinity of 7p14.3 and is approximately 39 kb in length. This allele, which encodes glycine-tRNA ligase protein, is involved in the synthesis of glycyl-tRNA. Mutation of the gene is associated with type 2D Charcot-Marie-Tooth disease and distal hereditary motor neuropathy, type Va.;

NCI Metathesaurus CUI : CL520378;

GenBank Accession Number : AK074524;

Details

Origin ID

C132128;

UMLS CUI

C4318453;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant Charcot-Marie-Tooth disease type 2D [ORDO Disease]
- Charcot-Marie-Tooth disease type 2D [DO Concept]
- Charcot-Marie-Tooth disease, type 2D [MeSH Supplementary Concept]
- Charcot-marie-tooth disease, axonal, type 2d [OMIM Phenotype]
- Glycyl-trna synthetase 1 [OMIM gene]
- Neuronopathy, distal hereditary motor, type va [OMIM Phenotype]
- Phosphoribosylglycinamide formyltransferase/phosphoribosylglycinamide synthetase/phosphoribosylaminoimidazole synthetase [OMIM gene]
- Smad family member 1 [OMIM gene]
- distal hereditary motor neuronopathy type 5 [DO Concept]
- glycyl-tRNA synthetase 1 [ORDO Gene]
- neuronopathy, distal hereditary motor, type V [MeSH Supplementary Concept]
OMIM relation
- Glycyl-trna synthetase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Aminoacyl-tRNA Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- RNA Processing [NCIt concept]
- Translational Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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