The association between SPINK5 (Serine Peptidase Inhibitor Kazal Type 5) and Ichthyosis Linearis Circumflexa is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.
Sources2
Clinical variants651
Symptoms1
Compounds0
Trials0
Publications38
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.