COL1A1-PDGFB Fusion Protein Expression

Preferred Label : COL1A1-PDGFB Fusion Protein Expression;

NCIt synonyms : COL1A1-PDGFbeta Fusion Protein Expression; COL1A1/PDGFB Fusion Protein Expression;

NCIt definition : A molecular abnormality characterized by the expression of a fusion protein that results from chromosomal recombination involving the human genes COL1A1 and PDGFB. This abnormal protein is associated with dermatofibrosarcoma protuberans.;

Details

Origin ID

C43301;

UMLS CUI

C1707138;

Molecular abnormality of diseases
- Classic Dermatofibrosarcoma Protuberans [NCIt concept]
- Fibrosarcomatous Dermatofibrosarcoma Protuberans [NCIt concept]
- Giant Cell Fibroblastoma [NCIt concept]
- Myoid Dermatofibrosarcoma Protuberans [NCIt concept]
- Myxoid Dermatofibrosarcoma Protuberans [NCIt concept]
- Pigmented Dermatofibrosarcoma Protuberans [NCIt concept]
- Plaque-Like Dermatofibrosarcoma Protuberans [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
molecular_abnormality_involves_gene
- COL1A1 Gene [NCIt concept]
- COL1A1/PDGFB Fusion Gene [NCIt concept]
- PDGFB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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