The association between ANKZF1 (Ankyrin Repeat And Zinc Finger Peptidyl TRNA Hydrolase 1) and Early-Onset Inflammatory Bowel Disease-Ulcerative Skin Lesions-Immunodeficiency Syndrome is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.
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At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.