ASS1 wt Allele

Preferred Label : ASS1 wt Allele;

NCIt synonyms : Argininosuccinate Synthase 1 wt Allele; RP11-618A20.2; CTLN1; ASS;

NCIt definition : Human ASS1 wild-type allele is located in the vicinity of 9q34.1 and is approximately 57 kb in length. This allele, which encodes argininosuccinate synthase protein, plays a role in amino acid metabolism and blood pressure. Mutation of the gene is associated with citrullinemia type 1.;

GenBank Accession Number : X01630;

Détails

Origin ID

C118541;

UMLS CUI

C3889972;

Automatic exact mappings (from CISMeF team)
- Argininosuccinate synthetase 1 [OMIM gene]
- Citrullinaemia type 1 [ICD-11 More detail]
- Citrullinemia type I [ORDO Disease]
- Citrullinemia, classic [OMIM Phenotype]
- Equus asinus (organism) [SNOMED CT concept]
- Methamphetamine [LOINC component]
- argininosuccinate synthase 1 [ORDO Gene]
- ass [SNOMED Notion]
- equidae [MeSH Descriptor]
- glass [MeSH Descriptor]
OMIM relation
- Argininosuccinate synthetase 1 [OMIM gene]
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_in_chromosomal_location
- 9q34.1 [NCIt concept]
gene_is_element_in_pathway
- Alanine, Aspartate and Glutamate Metabolism Pathway [NCIt concept]
- Arginine and Proline Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Amino Acid Biosynthesis [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients