Lysyl-trna synthetase 1

Preferred Label : Lysyl-trna synthetase 1;

Symbol : KARS1;

CISMeF acronym : KARS1;

Type : Gene;

Alternative titles and symbols : KARS; KRS;

Ensembl ID : ENSG00000065427;

Prefixed ID : *601421;

Details

Origin ID

601421;

UMLS CUI

C1416540;

Automatic exact mappings (from CISMeF team)
- lysyl-tRNA synthetase 1 [ORDO Gene]
- lysyl-tRNA synthetase 1 [HGNC gene]
HGNC gene
- lysyl-tRNA synthetase 1 [HGNC gene]
NCIt concept(s)
- KARS1 Gene [NCIt concept]
- KARS1 wt Allele [NCIt concept]
- Lysine-tRNA Ligase [NCIt concept]
ORDO concept(s)
- lysyl-tRNA synthetase 1 [ORDO Gene]
Phenotypes related
- Charcot-marie-tooth disease, recessive intermediate b [OMIM Phenotype]
- Deafness, autosomal recessive 89 [OMIM Phenotype]
- Deafness, congenital, and adult-onset progressive leukoencephalopathy [OMIM Phenotype]
- Leukoencephalopathy, progressive, infantile-onset, with or without deafness [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- KARS gene [LOINC component]
- lysyl-tRNA synthetase 1 [HGNC gene]

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