The association between ISG15 (ISG15 Ubiquitin Like Modifier) and Immunodeficiency 38 With Basal Ganglia Calcification is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.
Sources4
Clinical variants138
Symptoms21
Compounds0
Trials0
Publications2
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
