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