SOST wt Allele

Preferred Label : SOST wt Allele;

NCIt synonyms : Sclerosteosis Gene; VBCH; CDD; UNQ2976/PRO7455/PRO7476; Sclerostin wt Allele;

NCIt definition : Human SOST wild-type allele is located in the vicinity of 17q11.2 and is approximately 5 kb in length. This allele, which encodes sclerostin protein, is involved in the negative regulation of ossification. Mutation of the gene is associated with bone dysplasias including sclerosteosis type 1, van Buchem disease and craniodiaphyseal dysplasia autosomal dominant.;

GenBank Accession Number : AF326736;

Details

Origin ID

C105077;

UMLS CUI

C3542927;

Automatic exact mappings (from CISMeF team)
- Aplasia of diaphragm (disorder) [SNOMED CT concept]
- CDD ID [EDAM data]
- CDKL5-deficiency disorder [ORDO Disease]
- Craniodiaphyseal dysplasia [OMIM Phenotype]
- Craniodiaphyseal dysplasia, autosomal dominant [OMIM Phenotype]
- Sclerosteosis [ORDO Disease]
- Structural developmental anomalies of diaphragm [ICD-11 Category]
- Van buchem disease [OMIM Phenotype]
- sclerostin [ORDO Gene]
OMIM relation
- Sclerostin [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
- 17q11.2 [NCIt concept]
gene_is_element_in_pathway
- Wnt Signaling Pathway KEGG [NCIt concept]
- Wnt Signaling Pathway PID [NCIt concept]
gene_plays_role_in_process
- Environment-to-Cell Communication [NCIt concept]
- Signal Transduction [NCIt concept]
- Signal Transduction Inhibition [NCIt concept]

Keyword's position in hierarchy(ies) :

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