BMPR1A Gene - CISMeF

Preferred Label : BMPR1A Gene;

NCIt synonyms : Bone Morphogenetic Protein Receptor Type 1A Gene;

NCIt related terms : BMPR1A;

CISMeF acronym : BMPR1A;

NCIt definition : This gene plays a role in the bone morphogenetic protein signaling pathway.;

Details

Origin ID

C21366;

UMLS CUI

C1332430;

HGNC gene
- bone morphogenetic protein receptor type 1A [HGNC gene]
OMIM relation
- Bone morphogenetic protein receptor, type ia [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- BMPR1A gene [LOINC component]
- Bone morphogenetic protein receptor, type ia [OMIM gene]
- bone morphogenetic protein receptor type 1A [HGNC gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_associated_with_disease
- Cowden Syndrome [NCIt concept]
gene_encodes_gene_product
- Bone Morphogenetic Protein Receptor Type-1A [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- BMPR1A Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Juvenile Polyposis Syndrome [NCIt concept]
gene_mapped_to_disease
- Juvenile Polyposis Syndrome [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]
genetic_biomarker_related_to
- Juvenile Polyposis Syndrome [NCIt concept]

Keyword's position in hierarchy(ies) :

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