BMP4 wt Allele

Preferred Label : BMP4 wt Allele;

NCIt synonyms : ZYME; Bone Morphogenetic Protein 4 wt Allele; BMP2B1; MCOPS6; OFC11; DVR4; BMP2B;

NCIt definition : Human BMP4 wild-type allele is located within 14q22-q23 and is approximately 7 kb in length. This allele, which encodes bone morphogenetic protein 4, plays a role in cartilage and bone formation, mesoderm induction, tooth development, and limb formation. Mutation of the gene is associated with microphthalmia syndromic type 6 and non-syndromic orofacial cleft type 11.;

GenBank Accession Number : AF035427;

Details

Origin ID

C95042;

UMLS CUI

C2986866;

False automatic mappings
- Microphthalmia, syndromic 6 [OMIM Phenotype]
- Orofacial cleft 11 [OMIM Phenotype]
- microphthalmia, syndromic 6 [MeSH Supplementary Concept]
OMIM relation
- Bone morphogenetic protein 4 [OMIM gene]
See also inter- (CISMeF)
- Microphthalmia with brain and digit anomalies [ORDO Disease]
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_is_element_in_pathway
- Basal Cell Carcinoma Pathway [NCIt concept]
- Glypican 3 Signaling Pathway [NCIt concept]
- Hedgehog 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]
- Developmental Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Positive Regulation of Apoptosis [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Skeletal Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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