Annotation Detail

Information
Associated Genes
PDGFRA
Associated Variants
PDGFRA MUTATION
PDGFRA MUTATION
Associated Disease
Gastrointestinal Stromal Tumors
Source Database
DisGeNET
Description
Patients with metastatic KIT/PDGFRA wild-type succinate dehydrogenase-deficient gastrointestinal stromal tumors harboring succinate dehydrogenase subunit A mutations present an impressively long survival.
Pubmed
25188872
Section of the abstract supporting the evidence
CONCLUSION
Number of the section of the abstract supporting the evidence
4
Number of the sentence supporting the evidence
9
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