Annotation Detail

Information
Associated Genes
PDGFRA
Associated Variants
PDGFRA MUTATION
PDGFRA MUTATION
Associated Disease
Gastrointestinal Stromal Tumors
Source Database
DisGeNET
Description
In the current study, we set out to explore the frequency and distribution pattern of c-KIT (exons 9, 11 and 13) and PDGFRA (exons 12 and 18) by direct sequencing in a series of 70 Indian GIST cases.
Pubmed
25481675
Section of the abstract supporting the evidence
ALL_TEXT_1/3
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
2
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