The association between LOC126861258 (MED14-Independent Group 3 Enhancer GRCh37_chr11:72012242-72013441) and 3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement And Neutropenia is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.
Sources1
Clinical variants60
Symptoms0
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.