TSHR wt Allele

Preferred Label : TSHR wt Allele;

NCIt synonyms : Thyroid Stimulating Hormone Receptor wt Allele; hTSHR-I; CHNG1; LGR3;

NCIt definition : Human TSHR wild-type allele is located within 14q31 and is approximately 189 kb in length. This allele, which encodes thyrotropin receptor protein, is involved in the control of thyroid cell metabolism. Defects in the gene are known to cause hypothyroidism and Graves' disease.;

GenBank Accession Number : NM_000369;

Details

Origin ID

C51481;

UMLS CUI

C1710333;

Automatic exact mappings (from CISMeF team)
- Hypothyroidism, congenital, nongoitrous, 1 [OMIM Phenotype]
- Thyroid-stimulating hormone receptor [OMIM Phenotype]
- congenital nongoitrous hypothyroidism 1 [DO Concept]
- thyroid stimulating hormone receptor [ORDO Gene]
OMIM relation
- Thyroid-stimulating hormone receptor [OMIM Phenotype]
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_associated_with_disease
- Hyperthyroidism [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q31 [NCIt concept]
gene_is_element_in_pathway
- Autoimmune Thyroid Disease Pathway [NCIt concept]
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Growth Regulation [NCIt concept]
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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