RTL1, retrotransposon Gag like 1, 388015

N. diseases: 119; N. variants: 2
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 GeneticVariation disease BEFREE Although recent studies in patients with paternal uniparental disomy 14 [upd(14)pat] and other conditions affecting the chromosome 14q32.2 imprinted region have successfully identified underlying epigenetic factors involved in the development of upd(14)pat phenotype, several matters, including regulatory mechanism(s) for RTL1 expression, imprinting status of DIO3 and placental histological characteristics, remain to be elucidated. 22917972 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