The association between LOC126860582 (P300/CBP Strongly-Dependent Group 1 Enhancer GRCh37_chr9:14812530-14813729) and Bifid Nose With Or Without Anorectal And Renal Anomalies is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.
Sources1
Clinical variants27
Symptoms35
Compounds0
Trials0
Publications2
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.