GDF5 wt Allele

Preferred Label : GDF5 wt Allele;

NCIt synonyms : BMP14; Growth Differentiation Factor 5 wt Allele; OS5; SYNS2; CDMP1; LAP4; BDA1C; SYM1B; LAP-4; BMP-14;

NCIt definition : Human GDF5 wild-type allele is located in the vicinity of 20q11.2 and is approximately 5 kb in length. This allele, which encodes growth/differentiation factor 5 protein, is involved in skeletal development. Mutations in the gene produce variants that are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe type.;

GenBank Accession Number : NM_000557;

Details

Origin ID

C51536;

UMLS CUI

C1708117;

Automatic exact mappings (from CISMeF team)
- 2-amino-4-phosphono-propinate [MeSH Supplementary Concept]
- Brachydactyly, type a1, C [OMIM Phenotype]
- Growth/differentiation factor 5 [OMIM gene]
- Osteoarthritis susceptibility 5 [OMIM Phenotype]
- Symphalangism, proximal, 1b [OMIM Phenotype]
- brachydactyly type A1C [DO Concept]
- growth differentiation factor 5 [MeSH Descriptor]
- growth differentiation factor 5 [ORDO Gene]
OMIM relation
- Growth/differentiation factor 5 [OMIM gene]
See also inter- (CISMeF)
- Multiple synostoses syndrome 2 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 20: 33489441-33484563 [NCIt concept]
gene_in_chromosomal_location
- 20q11.2 [NCIt concept]
gene_is_element_in_pathway
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- TGF-beta Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Skeletal Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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