Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA MUTATION
PDGFRA MUTATION - Associated Disease
- neurofibromatosis 1
- Source Database
- DisGeNET
- Description
- Furthermore, KIT/PDGFRA wt-GIST are observed in the context of hereditary syndromes, such as neurofibromatosis Type 1, in which the lack of neurofibromin 1 also leads to the activation of the RAS/RAF/MAP-kinase pathway.
- Pubmed
- 25831232
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00244297684872273
Drugs