The association between ITPR3 (Inositol 1,4,5-Trisphosphate Receptor Type 3) and Immunodeficiency 133 With Ectodermal Dysplasia With Or Without Peripheral Neuropathy is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and causative variation.
Sources2
Clinical variants0
Symptoms198
Compounds0
Trials0
Publications0
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
