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
|
|