Annotation Detail
Information
- Associated Genes
- MAPK1
- Associated Variants
-
MAPK1 MUTATION
MAPK1 MUTATION - Associated Disease
- Cardio-facio-cutaneous syndrome
- Source Database
- DisGeNET
- Description
- These results suggest that our new Braf knockin mice recapitulate major features of RASopathies and that epigenetic modulation as well as the inhibition of the ERK pathway will be a potential therapeutic strategy for the treatment of CFC syndrome.
- Pubmed
- 25035421
- 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
- 10
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
Drugs