Annotation Detail

Information
Associated Genes
HMGA2
Associated Variants
HMGA2 MUTATION
HMGA2 MUTATION
Associated Disease
soft tissue chondroma
Source Database
DisGeNET
Description
Although the molecular mechanism underlying its pathogenesis remains largely unknown, 12q13-15 rearrangements followed by the activation of HMGA2, which is associated with cell proliferation, have been reported in soft tissue chondromas.
Pubmed
25250651
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
2
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Drugs