The association between GPD1 (Glycerol-3-Phosphate Dehydrogenase 1) and Transient Infantile Hypertriglyceridemia And Hepatosteatosis 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 variants23
Symptoms0
Compounds0
Trials0
Publications4
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.