The association between PKD1L1 (Polycystin 1 Like 1, Transient Receptor Potential Channel Interacting) and Visceral Heterotaxy is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.
Sources3
Clinical variants2
Symptoms0
Compounds0
Trials0
Publications1
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.