Annotation Detail
Information
- Associated Genes
- RAF1
- Associated Variants
-
RAF1 MUTATION
RAF1 MUTATION - Associated Disease
- Vascular Diseases
- Source Database
- DisGeNET
- Description
- These two cases suggest that abnormal activation of the Ras/MAPK pathway may play a significant role in the development of pulmonary vascular disease in the subset of patients with Noonan syndrome and a specific RAF1 mutation.
- Pubmed
- 25706034
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 5
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs