Related LncRNAs
ID lncRNA Name Disease Method Sample Expression pattern Dysfunction type Description PMID Source
EL0248 BPESC1 blepharophimosis syndrome N/A N/A N/A mutation BPESC1 is disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES. 10995571 LncRNADisease
EL1071 PISRT1 blepharophimosis syndrome N/A N/A N/A mutation The blepharophimosis syndrome (BPES) is driven by dysregulation of the FOXL2 gene, numerous extragenic mutations have been reported in patients. One particular deletion occurring 283 kb away from FOXL2 disrupts a lncRNA, PISRT1, that was shown by chromatin confirmation capture to physically loop with FOXL2. 20930520 LncRNADisease