TG wt Allele - CISMeF

Preferred Label : TG wt Allele;

NCIt synonyms : Thyroglobulin wt Allele; AITD3; TGN;

NCIt definition : Human TG wild-type allele is located in the vicinity of 8q24 and is approximately 268 kb in length. This allele, which encodes thyroglobulin protein, plays a role in the mediation of thyroid hormone production. Mutations in the gene are involved in goiter formation and genetic variants are associated with autoimmune thyroid disease type 3.;

GenBank Accession Number : NM_003235;

Details

Origin ID

C52488;

UMLS CUI

C1705612;

Automatic exact mappings (from CISMeF team)
- 6-Thioguanine [LOINC component]
- Autoimmune thyroid disease, susceptibility to, 3 [OMIM Phenotype]
- Thioguanine [LOINC component]
- Thyroglobulin [OMIM gene]
- Thyroglobulin [LOINC component]
- Tioguanine (substance) [SNOMED CT concept]
- chromatin silencing [GO term]
- thermogravimetry [IUPAC Term]
- thyroglobulin [ORDO Gene]
- thyroglobulin [MeSH Descriptor]
- trans-Golgi network [GO term]
- triglycerides [MeSH Descriptor]
False automatic mappings
- Product containing tioguanine (medicinal product) [SNOMED CT concept]
OMIM relation
- Thyroglobulin [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
- 8q24.2-q24.3 [NCIt concept]
gene_is_element_in_pathway
- Autoimmune Thyroid Disease Pathway [NCIt concept]
gene_plays_role_in_process
- Intercellular Communication Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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