PHOX2B Gene - CISMeF

Preferred Label : PHOX2B Gene;

NCIt synonyms : Paired-Like Homeobox 2b Gene;

NCIt related terms : PHOX2B;

CISMeF acronym : PHOX2B;

NCIt definition : This gene plays a role in the regulation of transcription.;

Details

Origin ID

C97724;

UMLS CUI

C1418697;

Automatic exact mappings (from CISMeF team)
- PHOX2B gene [LOINC component]
- Paired-like homeobox 2b [OMIM gene]
- paired like homeobox 2B [ORDO Gene]
HGNC gene
- paired like homeobox 2B [HGNC gene]
OMIM relation
- Paired-like homeobox 2b [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PHOX2B gene [LOINC component]
- Paired-like homeobox 2b [OMIM gene]
- paired like homeobox 2B [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_encodes_gene_product
- Paired Mesoderm Homeobox Protein 2B [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- PHOX2B Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hereditary Neuroblastoma [NCIt concept]
gene_mapped_to_disease
- Hereditary Neuroblastoma [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Transcriptional Regulation [NCIt concept]
genetic_biomarker_related_to
- Genetic Predisposition to Neuroblastoma [NCIt concept]
- Hereditary Neuroblastoma [NCIt concept]

Keyword's position in hierarchy(ies) :

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