PAX3 Gene - CISMeF

Preferred Label : PAX3 Gene;

NCIt synonyms : Paired Box Gene 3 (Waardenburg Syndrome 1) Gene;

NCIt related terms : PAX3;

CISMeF acronym : PAX3;

NCIt definition : This gene plays a role in the transcriptional activation of target genes. It is involved in melanogenesis, neurogenesis and skeletal muscle development.;

Details

Origin ID

C24658;

UMLS CUI

C1335192;

Automatic exact mappings (from CISMeF team)
- PAX3 gene [LOINC component]
- Paired box gene 3 [OMIM gene]
- paired box 3 [ORDO Gene]
HGNC gene
- paired box 3 [HGNC gene]
OMIM relation
- Paired box gene 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PAX3 gene [LOINC component]
- Paired box gene 3 [OMIM gene]
- paired box 3 [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- Paired Box Protein Pax-3 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- PAX3 Gene Rearrangement [NCIt concept]
- PAX3-FOXO1 Fusion Protein Expression [NCIt concept]
- PAX3-FOXO4 Fusion Protein Expression [NCIt concept]
- PAX3-NCOA1 Fusion Protein Expression [NCIt concept]
- t(2;13)(q35;q14) [NCIt concept]
- t(2;4)(q36.1;q31.1) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Biphenotypic Sinonasal Sarcoma [NCIt concept]
gene_mapped_to_disease
- Biphenotypic Sinonasal Sarcoma [NCIt concept]
- Waardenburg Syndrome Type 1 [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- DNA Binding [NCIt concept]
- Maturation [NCIt concept]
- Organogenesis [NCIt concept]
- Transcriptional Regulation [NCIt concept]
genetic_biomarker_related_to
- FOXO1/PAX3 Fusion Gene [NCIt concept]
- PAX3/FOXO1 Fusion Gene [NCIt concept]
- PAX3/FOXO1 Fusion Protein [NCIt concept]
- PAX3/FOXO4 Fusion Gene [NCIt concept]
- PAX3/FOXO4 Fusion Protein [NCIt concept]
- PAX3/MAML3 Fusion Gene [NCIt concept]
- PAX3/MAML3 Fusion Protein [NCIt concept]
- PAX3/NCOA1 Fusion Gene [NCIt concept]
- PAX3/NCOA1 Fusion Protein [NCIt concept]

Keyword's position in hierarchy(ies) :

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