BMPR1A wt Allele

Preferred Label : BMPR1A wt Allele;

NCIt synonyms : Bone Morphogenetic Protein Receptor Type 1A wt Allele; ACVRLK3; BMPR1A; SKR5; CD292; ALK3; Bone Morphogenetic Protein Receptor, Type IA Gene;

NCIt definition : Human BMPR1A wild-type allele is located in the vicinity of 10q22.3 and is approximately 169 kb in length. This allele, which encodes bone morphogenetic protein receptor type IA protein, is involved in signal transduction pertaining to bone morphogenesis. Germline mutations in the gene cause a subset of juvenile polyposis syndrome and Cowden syndrome.;

GenBank Accession Number : NM_004329;

Details

Origin ID

C51727;

UMLS CUI

C1706016;

OMIM relation
- Bone morphogenetic protein receptor, type ia [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
- Cowden Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 10: 88506376-88674925 [NCIt concept]
gene_in_chromosomal_location
- 10q22.3 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Juvenile Polyposis Syndrome [NCIt concept]
gene_is_element_in_pathway
- ALK Pathway [NCIt concept]
- BMP Receptor Signaling Pathway [NCIt concept]
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- TGF-beta Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- Skeletal Development [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients