KBTBD4 Small In-Frame Insertion Mutation

Preferred Label : KBTBD4 Small In-Frame Insertion Mutation;

NCIt synonyms : BKLHD4 Small In-Frame Insertion Mutation; Kelch Repeat and BTB Domain Containing 4 Small In-Frame Insertion Mutation; KBTBD4 Hotspot In-Frame Insertion Mutation;

NCIt definition : An in-frame nucleotide insertion affecting six codons or less in the KBTBD4 gene.;

NCI Metathesaurus CUI : CL1778863;

Details

Origin ID

C186574;

UMLS CUI

C5670641;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_molecular_abnormality_of_disease
- Childhood Pineal Parenchymal Tumor of Intermediate Differentiation [NCIt concept]
- Pineal Parenchymal Tumor of Intermediate Differentiation [NCIt concept]
molecular_abnormality_involves_gene
- KBTBD4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients