Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA MUTATION
PDGFRA MUTATION - Associated Disease
- Gastrointestinal Stromal Tumors
- Source Database
- DisGeNET
- Description
- Activating mutations in either KIT or PDGFRA are present in approximately 90% of gastrointestinal stromal tumors (GIST).
- Pubmed
- 25673643
- Section of the abstract supporting the evidence
- UNLABELLED
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.615647293561465
Drugs