PRKDC Gene - CISMeF

Preferred Label : PRKDC Gene;

NCIt synonyms : Protein Kinase, DNA-Activated, Catalytic Polypeptide Gene; PRKDC;

CISMeF acronym : PRKDC;

NCIt definition : This gene plays a role in cellular homeostasis by transcription modulation. The gene is also involved in V(D)J recombination.;

Details

Origin ID

C20337;

UMLS CUI

C1335262;

Automatic exact mappings (from CISMeF team)
- Protein kinase, dna-activated, catalytic subunit [OMIM gene]
- protein kinase, DNA-activated, catalytic subunit [ORDO Gene]
HGNC gene
- protein kinase, DNA-activated, catalytic subunit [HGNC gene]
OMIM relation
- Protein kinase, dna-activated, catalytic subunit [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Protein kinase, dna-activated, catalytic subunit [OMIM gene]
- protein kinase, DNA-activated, catalytic subunit [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]
gene_encodes_gene_product
- DNA-Dependent Protein Kinase Catalytic Subunit [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Inactivating PRKDC Gene Mutation [NCIt concept]
- PRKDC Gene Mutation [NCIt concept]
gene_mapped_to_disease
- Immunodeficiency 26 with or without Neurologic Abnormalities [NCIt concept]
gene_plays_role_in_process
- DNA Recombination Process [NCIt concept]
- DNA Repair [NCIt concept]
- Nonhomologous DNA End Joining [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- Telomere Capping [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- V(D)J Recombination [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

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