PDGFRB Gene Mutation

Preferred Label : PDGFRB Gene Mutation;

NCIt synonyms : Platelet Derived Growth Factor Receptor Beta Gene Mutation; JTK12 Gene Mutation; PDGFR1 Gene Mutation; CD140b Gene Mutation;

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

NCI Metathesaurus CUI : CL508922;

Details

Origin ID

C128172;

UMLS CUI

C4288531;

Molecular abnormality of diseases
- Adult Myofibroma [NCIt concept]
- Infantile Myofibroma [NCIt concept]
- Myofibroma [NCIt concept]
- Myopericytoma [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- PDGFRB NP_002600.1:p.T681I [NCIt concept]
- PDGFRB Protein Variant [NCIt concept]
is_molecular_abnormality_of_disease
- Infantile Myofibromatosis 1 [NCIt concept]
molecular_abnormality_involves_gene
- PDGFRB Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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