Disease: Temple syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015558
Disease: Temple syndrome
Temple syndrome 		0.040 Biomarker disease BEFREE Such a methylation pattern of the MEG3/DLK1:IG-DMR has not been reported in patients with TS14. 30846001 2019
CUI: C4015558
Disease: Temple syndrome
Temple syndrome 		0.040 Biomarker disease BEFREE IDs related to hypomethylation of the human 14q32.2 region and its <i>DLK1/MEG3</i> domain are associated with Temple syndrome (TS14). 30801013 2019
CUI: C4015558
Disease: Temple syndrome
Temple syndrome 		0.040 Biomarker disease BEFREE We conclude that DLK1 loss of function is likely to be responsible for the core features of TS, while haploinsufficiency of a gene outside the imprinted region causes ID. 26333654 2016
CUI: C4015558
Disease: Temple syndrome
Temple syndrome 		0.040 GeneticVariation disease BEFREE Three individuals presented with UPD(14)mat-like phenotypes (Temple syndrome) and had apparently de novo deletions spanning the imprinted region, including DLK1. 25756153 2015