MEG3, maternally expressed 3, 55384

N. diseases: 239; N. variants: 8
Disease: Uniparental disomy, paternal, chromosome 14 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842466
Disease: Uniparental disomy, paternal, chromosome 14
Uniparental disomy, paternal, chromosome 14 		0.310 ChromosomalRearrangement disease ORPHANET Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32. 24801763 2015
CUI: C1842466
Disease: Uniparental disomy, paternal, chromosome 14
Uniparental disomy, paternal, chromosome 14 		0.310 GeneticVariation disease BEFREE Paternal uniparental disomy 14 (UPD(14)pat) results in a unique constellation of clinical features, and a similar phenotypic constellation is also caused by microdeletions involving the DLK1-MEG3 intergenic differentially methylated region (IG-DMR) and/or the MEG3-DMR and by epimutations (hypermethylations) affecting the DMRs. 22353941 2012
CUI: C1842466
Disease: Uniparental disomy, paternal, chromosome 14
Uniparental disomy, paternal, chromosome 14 		0.310 ChromosomalRearrangement disease ORPHANET Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. 18176563 2008