Annotation Detail
Information
- Associated Genes
- RASA1
- Associated Variants
-
RASA1 MUTATION
RASA1 MUTATION - Associated Disease
- neurofibromatosis 1
- Source Database
- DisGeNET
- Description
- Neurofibromatosis type I (NF1) is an autosomal dominant disease with an incidence of 1/3000, caused by mutations in the NF1 gene, which encodes the RAS/GTPase-activating protein neurofibromin.
- Pubmed
- 25043591
- 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
- DisGENET score for the Gene Disease association
- 0.00624316305784698
Drugs