FSHR wt Allele

Preferred Label : FSHR wt Allele;

NCIt synonyms : LGR1; Follicle Stimulating Hormone Receptor wt Allele; ODG1; MGC141668; FSHRO; MGC141667;

NCIt definition : Human FSHR wild-type allele is located in the vicinity of 2p16.3 and is approximately 201 kb in length. This allele, which encodes follicle-stimulating hormone receptor protein, plays a role in the regulation of female gamete generation, hormone signaling and gonad development. Mutation of the gene is associated with both ovarian dysgenesis type 1 and ovarian hyperstimulation syndrome.;

GenBank Accession Number : NM_000145;

Details

Origin ID

C94808;

UMLS CUI

C2986690;

OMIM relation
- Follicle-stimulating hormone receptor [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_associated_with_disease
- Gonadal Dysgenesis [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
- Spermatogenesis Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Oogenesis [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Spermatogenesis [NCIt concept]

Keyword's position in hierarchy(ies) :

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