FSHB wt Allele

Preferred Label : FSHB wt Allele;

NCIt synonyms : Follicle Stimulating Hormone, Beta Polypeptide wt Allele; FSH-B;

NCIt definition : Human FSHB wild-type allele is located in the vicinity of 11p13 and is approximately 4 kb in length. This allele, which encodes follitropin subunit beta protein, is involved in induction of sperm and egg production. Mutations in this gene are associated with follicle-stimulating hormone deficiency, isolated.;

GenBank Accession Number : NM_000510;

Details

Origin ID

C104398;

UMLS CUI

C3542965;

Automatic exact mappings (from CISMeF team)
- Follicle-stimulating hormone, beta polypeptide [OMIM gene]
- follicle stimulating hormone subunit beta [ORDO Gene]
OMIM relation
- Follicle-stimulating hormone, beta polypeptide [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
- 11p13 [NCIt concept]
gene_is_element_in_pathway
- Gonadotropin-Releasing Hormone Signaling Pathway [NCIt concept]
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
- Spermatogenesis Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Gametogenesis [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Menstrual Cycle [NCIt concept]
- Pregnancy [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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