TNFRSF11A wt Allele

Preferred Label : TNFRSF11A wt Allele;

NCIt synonyms : Tumor Necrosis Factor Receptor Superfamily, Member 11a, NFKB Activator wt Allele; CD265; RANK; Loss of Heterozygosity, Chromosome 18, Region 1 Gene; ODFR; FEO; OSTS; OPTB7; PDB2; TRANCER; LOH18CR1; OFE; Tumor Necrosis Factor Receptor Superfamily, Member 11A Gene; Osteosarcoma Tumor Suppressor Gene; Tumor Necrosis Factor Receptor Superfamily, Member 11a, Activator of NFKB Gene;

NCIt definition : Human TNFRSF11A wild-type allele is located in the vicinity of 18q22.1 and is approximately 61 kb in length. This allele, which encodes tumor necrosis factor receptor superfamily member 11A protein, plays a role in the regulation and maintenance of bone density.;

GenBank Accession Number : AF018253;

Details

Origin ID

C84931;

UMLS CUI

C2827557;

Automatic exact mappings (from CISMeF team)
- Familial expansile osteolysis [OMIM Phenotype]
- Osteopetrosis, autosomal recessive 7 [OMIM Phenotype]
- Paget disease of bone 2, early-onset [OMIM Phenotype]
- Rank (attribute) [SNOMED CT concept]
- TNF receptor superfamily member 11a [ORDO Gene]
- Tumor necrosis factor receptor superfamily, member 11a [OMIM gene]
- autosomal recessive osteopetrosis 7 [DO Concept]
- familial expansile osteolysis [DO Concept]
- monosaccharides [MeSH Descriptor]
- receptor activator of nuclear factor-kappa B [MeSH Descriptor]
OMIM relation
- Tumor necrosis factor receptor superfamily, member 11a [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
- Bone Paget Disease [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 18q22.1 [NCIt concept]
gene_is_element_in_pathway
- Bone Remodeling Pathway [NCIt concept]
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Bone Resorption Stimulation [NCIt concept]
- Cell Survival [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Inflammatory Response [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Tumor Necrosis Factor Signaling Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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