PTH wt Allele - CISMeF

Preferred Label : PTH wt Allele;

NCIt synonyms : PTH; Parathyroid Hormone wt Allele; PTH1;

NCIt definition : Human PTH wild-type allele is located within 11p15.3-p15.1 and is approximately 4 kb in length. This allele, which encodes parathyroid hormone protein, plays a role in calcium homeostasis. Mutation or aberrant expression of this gene can result in hypoparathyroidism.;

GenBank Accession Number : NM_000315;

Details

Origin ID

C52426;

UMLS CUI

C1705340;

OMIM relation
- Parathyroid hormone [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
- 11p15.3-p15.1 [NCIt concept]
gene_plays_role_in_process
- Intercellular Communication Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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