Related LncRNAs | |||||||||
---|---|---|---|---|---|---|---|---|---|
ID | lncRNA Name | Disease | Method | Sample | Expression pattern | Dysfunction type | Description | PMID | Source |
EL0556 | H19 | Silver-Russell syndrome | N/A | N/A | N/A | mutation | Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome | 19066168 | LncRNADisease |
EL0556 | H19 | Silver-Russell syndrome | N/A | N/A | N/A | epigenetics | The major finding (~44%) is a hypomethylation of the imprinting control region 1 (ICR1) in 11p15.5 affecting the expression of H19 and IGF2. 4-10% of the patients carry a maternal UPD of chromosome 7 (UPD(7)mat). | 21150838 | LncRNADisease |
EL0864 | MESTIT1 | Silver-Russell syndrome | N/A | N/A | N/A | N/A | Association | 12746419 | LncRNADisease |