Annotation Detail

Information
Associated Genes
AKT1
Associated Variants
AKT1 MUTATION
AKT1 MUTATION
Associated Disease
Cartilaginous exostosis
Source Database
DisGeNET
Description
For the first time mutation of AKT1 (c.49G > A) gene was detected both in cranial exostosis and in central odontogenic fibroma of the lower jaw.
Pubmed
25782637
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
7
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs