The association between LOC130009913 (ATAC-STARR-Seq Lymphoblastoid Silent Region 5414) and Neuronal Ceroid Lipofuscinosis is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.
Sources1
Clinical variants111
Symptoms4
Compounds0
Trials0
Publications9
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.