XIST, X inactive specific transcript, 7503

N. diseases: 146; N. variants: 0
Disease: Gonadal Dysgenesis, 45,X ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242526
Disease: Gonadal Dysgenesis, 45,X
Gonadal Dysgenesis, 45,X 		0.010 Biomarker disease BEFREE Molecular studies including methylation analysis of 17 differentially methylated regions (DMRs) on the autosomes and the XIST-DMR on the X chromosome and genome-wide microsatellite analysis for 96 autosomal loci and 30 X chromosomal loci revealed that the 46,XX cell lineage was accompanied by maternal uniparental isodisomy for all chromosomes (upid(AC)mat), whereas the 45,X cell lineage was associated with biparentally derived autosomes and a maternally derived X chromosome. 20685670 2010