The association between PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting) and Tuberous Sclerosis is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.
Sources1
Clinical variants21
Symptoms10
Compounds0
Trials0
Publications16
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.