The association between P3H2 (Prolyl 3-Hydroxylase 2) and Rare Isolated Myopia is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.
Sources2
Clinical variants1
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.