The association between SQSTM1 (Sequestosome 1) and Paget'S Disease Of Bone 2 is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.
Sources1
Clinical variants673
Symptoms0
Compounds0
Trials0
Publications36
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.