Related LncRNAs
ID lncRNA Name Disease Method Sample Expression pattern Dysfunction type Description PMID Source
EL0556 H19 Beckwith-Wiedemann syndrome N/A N/A N/A epigenetics Mosaicism for 11p15 UPD and hypermethylation of the H19 gene in blood cells were associated with an increased risk of tumour. 11436121 LncRNADisease
EL0556 H19 Beckwith-Wiedemann syndrome N/A N/A N/A epigenetics Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. 11813134 LncRNADisease
EL0556 H19 Beckwith-Wiedemann syndrome N/A N/A N/A mutation Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. 15314640 LncRNADisease
EL0556 H19 Beckwith-Wiedemann syndrome N/A N/A N/A locus The H19 locus acts in vivo as a tumor suppressor. 18719115 LncRNADisease
EL0556 H19 Beckwith-Wiedemann syndrome N/A N/A N/A epigenetics Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome. 7987305 LncRNADisease
EL0628 KCNQ1OT1 Beckwith-Wiedemann syndrome N/A N/A N/A locus KvDMR1 and/or its associated antisense RNA (KvLQT1-AS) represents an additional imprinting control element or center in the human 11p15.5 and mouse distal 7 imprinted domains. 10393948 LncRNADisease
EL0628 KCNQ1OT1 Beckwith-Wiedemann syndrome N/A N/A N/A locus The LIT1 CpG island can act as a negative regulator in cis for coordinate imprinting at the centromeric domain, thereby suggesting a role for the LIT1 locus in a BWS pathway leading to functional inactivation of p57(KIP2). 10958646 LncRNADisease
EL0628 KCNQ1OT1 Beckwith-Wiedemann syndrome N/A N/A N/A epigenetics The 5'end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome. 12136243 LncRNADisease
EL0628 KCNQ1OT1 Beckwith-Wiedemann syndrome N/A N/A N/A N/A In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene. 12746837 LncRNADisease
EL0628 KCNQ1OT1 Beckwith-Wiedemann syndrome N/A N/A N/A locus In the human and mouse BWS imprinting regions, two major elements for regulation of imprinted gene expression have been identified athe imprinting centers IC1 and IC2.IC2 appears to be the promoter of the paternally expressed probably noncoding transcript. 15590939 LncRNADisease
EL0628 KCNQ1OT1 Beckwith-Wiedemann syndrome N/A N/A N/A N/A LIT1 (KCNQ1OT1) may play a role in Beckwith-Wiedemann syndrome. 15888726 LncRNADisease
EL0628 KCNQ1OT1 Beckwith-Wiedemann syndrome N/A N/A N/A epigenetics In Beckwith-Wiedemann syndrome (BWS), approximately 50% of patients show loss of DNA methylation accompanied by loss of histone H3 Lys9 dimethylation on maternal KCNQ1OT-DMR, namely an imprinting disruption, leading to diminished expression of CDKN1C. 16575194 LncRNADisease
EL0628 KCNQ1OT1 Beckwith-Wiedemann syndrome N/A N/A N/A regulation Epigenetic deregulation of lncRNAs genes is associated with disease 23791884 LncRNADisease