PRDM9, PR/SET domain 9, 56979

N. diseases: 27; N. variants: 1
Disease: Prader-Willi Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.010 GeneticVariation disease BEFREE We sequenced the PRDM9 ZF domain in 271 parents of patients with de novo microdeletions of known parental origin (velocardiofacial syndrome, the 17q21.31 microdeletion syndrome, Prader-Willi/Angelman syndrome and Williams-Beuren syndrome), and in 61 parents of individuals with a supernumerary X chromosome. 22643917 2012