GDF2 wt Allele

Preferred Label : GDF2 wt Allele;

NCIt synonyms : BMP-9; BMP9; Growth Differentiation Factor 2 wt Allele; HHT5;

NCIt definition : Human GDF2 wild-type allele is located in the vicinity of 10q11.22 and is approximately 5 kb in length. This allele, which encodes growth/differentiation factor 2 protein, plays a role in angiogenesis regulation. Mutation of the gene is associated with hereditary hemorrhagic telangiectasia type 5.;

NCI Metathesaurus CUI : CL507968;

GenBank Accession Number : AF156891;

Details

Origin ID

C126996;

UMLS CUI

C4282444;

Automatic exact mappings (from CISMeF team)
- Growth/differentiation factor 2 [OMIM gene]
- Telangiectasia, hereditary hemorrhagic, type 5 [OMIM Phenotype]
- growth differentiation factor 2 [MeSH Descriptor]
- growth differentiation factor 2 [ORDO Gene]
OMIM relation
- Growth/differentiation factor 2 [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_plays_role_in_process
- Angiogenic Process [NCIt concept]
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Developmental Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Morphogenesis [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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