RUNX2 wt Allele

Preferred Label : RUNX2 wt Allele;

NCIt synonyms : PEBP2A2; OSF-2; AML3; Runt-Related Transcription Factor 2 wt Allele; CCD1; PEBP2aA; PEBP2A1; CBFA1; MGC120023; PEA2aA; OSF2; PEBP2aA1; MGC120022; CCD;

NCIt definition : Human RUNX2 wild-type allele is located in the vicinity of 6p21 and is approximately 223 kb in length. This allele, which encodes runt-related transcription factor 2 protein, is involved in osteoblastic differentiation, skeletal morphogenesis and hematopoietic stem cell differentiation. Mutation of the gene is associated with cleidocranial dysplasia.;

GenBank Accession Number : AF001450;

Details

Origin ID

C91786;

UMLS CUI

C2984559;

Currated CISMeF NLP mapping
- CCD [LOINC Challenge]
OMIM relation
- Runt-related transcription 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_associated_with_disease
- Cleidocranial Dysplasia [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6p21 [NCIt concept]
gene_is_element_in_pathway
- FGF Signaling Pathway [NCIt concept]
- Regulation of Nuclear SMAD2/3 Signaling Pathway [NCIt concept]
- Regulation of Retinoblastoma Protein Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Skeletal Development [NCIt concept]
- Transcription [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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