RAG1 Gene Mutation

Preferred Label : RAG1 Gene Mutation;

NCIt synonyms : RAG-1 Gene Mutation; Recombination Activating 1 Gene Mutation; RNF74 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the RAG1 gene.;

NCI Metathesaurus CUI : CL1792371;

Details

Origin ID

C187699;

UMLS CUI

C5707297;

Molecular abnormality of diseases
- Severe Combined Immunodeficiency due to RAG1 Deficiency [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- RAG1 Gene [NCIt concept]

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