TIA1 wt Allele

Preferred Label : TIA1 wt Allele;

NCIt synonyms : TIA-1; TIA1 Cytotoxic Granule-Associated RNA Binding Protein wt Allele; WDM; TIA1 Cytotoxic Granule-Associated RNA-Binding Protein Gene; P40-TIA-1 (Containing P15-TIA-1) Gene;

NCIt definition : Human TIA1 wild-type allele is located in the vicinity of 2p13 and is approximately 39 kb in length. This allele, which encodes nucleolysin TIA-1 isoform p40, plays a role in both RNA binding and splicing. Mutation of the gene is associated with Welander distal myopathy.;

NCI Metathesaurus CUI : CL508993;

GenBank Accession Number : NM_022037;

Details

Origin ID

C127898;

UMLS CUI

C4283956;

Automatic exact mappings (from CISMeF team)
- Distal myopathy, Welander type [ORDO Disease]
- TIA1 cytotoxic granule associated RNA binding protein [ORDO Gene]
- Tia1 cytotoxic granule-associated rna-binding protein [OMIM gene]
- Welander distal myopathy [OMIM Phenotype]
OMIM relation
- Tia1 cytotoxic granule-associated rna-binding protein [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
- 2p13 [NCIt concept]
gene_is_element_in_pathway
- West Nile Virus Pathway [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- RNA Binding [NCIt concept]
- RNA Splicing [NCIt concept]

Keyword's position in hierarchy(ies) :

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