BLM Gene Mutation

Preferred Label : BLM Gene Mutation;

NCIt synonyms : RECQL2 Gene Mutation; RECQL3 Gene Mutation; Bloom Syndrome Gene Mutation; RECQ2 Gene Mutation; BS Gene Mutation;

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

Details

Origin ID

C43287;

UMLS CUI

C1706890;

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]
gene_mutant_encodes_gene_product_sequence_variation
- BLM NP_000048.1:p.Y736fs*4 [NCIt concept]
- BLM Protein Variant [NCIt concept]
is_abnormality_of_gene
- BLM Gene [NCIt concept]
- BLM wt Allele [NCIt concept]
is_molecular_abnormality_of_disease
- Bloom Syndrome [NCIt concept]
molecular_abnormality_involves_gene
- BLM Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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