TTR Gene - CISMeF

Preferred Label : TTR Gene;

NCIt synonyms : Transthyretin Gene;

NCIt related terms : TTR;

CISMeF acronym : TTR;

NCIt definition : This gene is involved in both the binding and transport of retinol and the thyroid hormone thyroxine.;

Details

Origin ID

C79961;

UMLS CUI

C1421224;

Automatic exact mappings (from CISMeF team)
- TTR gene [LOINC component]
- Transthyretin [OMIM gene]
- transthyretin [ORDO Gene]
HGNC gene
- transthyretin [HGNC gene]
OMIM relation
- Transthyretin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- TTR gene [LOINC component]
- Transthyretin [OMIM gene]
- transthyretin [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Amyloidosis [NCIt concept]
gene_encodes_gene_product
- Transthyretin [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- TTR Gene Mutation [NCIt concept]
gene_mapped_to_disease
- Hereditary Transthyretin Amyloid Cardiomyopathy [NCIt concept]
- Hereditary Transthyretin Amyloidosis with Polyneuropathy [NCIt concept]
- Transthyretin Amyloid Cardiomyopathy [NCIt concept]
gene_plays_role_in_process
- Intermediary Metabolic Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]
genetic_biomarker_related_to
- TTR Gene Mutation Negative [NCIt concept]

Keyword's position in hierarchy(ies) :

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