The association between KLHL9 (Kelch Like Family Member 9) and Klhl9-Related Early-Onset Distal Myopathy is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.
Sources1
Clinical variants0
Symptoms18
Compounds0
Trials0
Publications1
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At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.