The association between NHERF1 (NHERF Family PDZ Scaffold Protein 1) and Dominant Hypophosphatemia With Nephrolithiasis Or Osteoporosis is well established and manually curated, drawing on a single expert-curated source, which records a causative germline mutation.
Sources1
Clinical variants5
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.