RAG1 Gene - CISMeF

Preferred Label : RAG1 Gene;

NCIt synonyms : Recombination Activating 1 Gene;

NCIt related terms : RAG1;

CISMeF acronym : RAG1;

NCIt definition : This gene is involved in immunoglobulin diversity.;

Details

Origin ID

C80068;

UMLS CUI

C0085218;

HGNC gene
- recombination activating 1 [HGNC gene]
OMIM relation
- Recombination-activating gene 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Recombination-activating gene 1 [OMIM gene]
- genes, RAG-1 [MeSH concept]
- genes, rag-1 [MeSH Descriptor]
- recombination activating 1 [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
- V(D)J Recombination-Activating Protein 1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- RAG1 Gene Mutation [NCIt concept]
gene_mapped_to_disease
- Hypomorphic RAG1 Deficiency [NCIt concept]
- Severe Combined Immunodeficiency due to RAG1 Deficiency [NCIt concept]
- Severe Combined Immunodeficiency due to RAG2 Deficiency [NCIt concept]
gene_plays_role_in_process
- DNA Recombination Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Immune System Process [NCIt concept]
- Monoubiquitination [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]
- V(D)J Recombination [NCIt concept]
genetic_biomarker_related_to
- Hypomorphic RAG1 Deficiency [NCIt concept]
- Omenn Syndrome [NCIt concept]
- Severe Combined Immunodeficiency due to RAG1 Deficiency [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients