PAX5 Gene - CISMeF

Preferred Label : PAX5 Gene;

NCIt synonyms : Paired Box 5 Gene;

NCIt related terms : PAX5;

CISMeF acronym : PAX5;

NCIt definition : This gene is involved in the transcriptional regulation of target genes. It plays a role in B-cell differentiation, neural development and spermatogenesis.;

Details

Origin ID

C24659;

UMLS CUI

C1335193;

Automatic exact mappings (from CISMeF team)
- PAX5 [LOINC component]
- Paired box gene 5 [OMIM gene]
- paired box 5 [ORDO Gene]
HGNC gene
- paired box 5 [HGNC gene]
OMIM relation
- Paired box gene 5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Paired box gene 5 [OMIM gene]
- paired box 5 [HGNC gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- Paired Box Protein Pax-5 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- PAX5 Gene Mutation [NCIt concept]
- PAX5 Gene Rearrangement [NCIt concept]
- PAX5 NM_016734.2:c.239C>G [NCIt concept]
- PAX5 NM_016734.2:c.547G>A [NCIt concept]
- PAX5 NM_016734.3:c.964G>A [NCIt concept]
- PAX5 NP_057953.1:p.A322T [NCIt concept]
- PAX5 NP_057953.1:p.G183S [NCIt concept]
- PAX5 NP_057953.1:p.P80R [NCIt concept]
- PAX5 Protein Variant [NCIt concept]
- t(9;14)(p13;q32) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- B Acute Lymphoblastic Leukemia with Germline PAX5 Mutation [NCIt concept]
- B Acute Lymphoblastic Leukemia with PAX5 Alteration [NCIt concept]
- B Acute Lymphoblastic Leukemia with PAX5 P80R Mutation [NCIt concept]
gene_mapped_to_disease
- B Acute Lymphoblastic Leukemia with Germline PAX5 Mutation [NCIt concept]
- B Acute Lymphoblastic Leukemia with PAX5 Alteration [NCIt concept]
- B Acute Lymphoblastic Leukemia with PAX5 P80R Mutation [NCIt concept]
gene_plays_role_in_process
- B-Cell Activation [NCIt concept]
- DNA Binding [NCIt concept]
- Neural Development [NCIt concept]
- Spermatogenesis [NCIt concept]
- Transcriptional Regulation [NCIt concept]
genetic_biomarker_related_to
- Acute Lymphoblastic Leukemia, Susceptibility to, 3 [NCIt concept]
- PAX5 Gene Alteration Positive [NCIt concept]
- PAX5 Negative [NCIt concept]
- PAX5 Positive [NCIt concept]

Keyword's position in hierarchy(ies) :

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