ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Disease: Generalized pruritus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0475858
Disease: Generalized pruritus
Generalized pruritus 		0.010 GeneticVariation phenotype BEFREE A 0.8 kb intronic duplication in MAGT1 and a single base pair deletion in the last exon of ATRX were identified using a chromosome X-specific microarray and exome sequencing in a family with five males demonstrating intellectual disability (ID) and unusual skin findings (e.g., generalized pruritus). 24130152 2014