Annotation Detail
Information
- Associated Genes
- RAF1
- Associated Variants
-
RAF1 MUTATION
RAF1 MUTATION - Associated Disease
- hypertrophic cardiomyopathy
- Source Database
- DisGeNET
- Description
- Mutations in RAF1 are associated with Noonan syndrome and hypertrophic cardiomyopathy.
- Pubmed
- 25706034
- 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
- 1
- Original source reporting the Gene Disease association
- BeFree,CTD_human,LHGDN
- DisGENET score for the Gene Disease association
- 0.124624443347029
Drugs