The association between NLRC4 (NLR Family CARD Domain Containing 4) and Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.
Sources3
Clinical variants704
Symptoms4
Compounds0
Trials0
Publications10
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.