ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Disease: alpha-Thalassemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 Biomarker disease BEFREE The ATRX protein belongs to the SWI/SNF family of chromatin remodeling proteins, which are frequently associated with α-thalassemia syndrome. 29725455 2018
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 GeneticVariation disease BEFREE ATRX germline variations are responsible for the rare genetic disorder X-linked alpha-thalassemia mental retardation (ATR-X) syndrome characterized by severe developmental delay and alpha-thalassemia but no obvious increased risk of cancer. 29706636 2018
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 GeneticVariation disease BEFREE Alpha-thalassemia mental retardation syndrome (ATR-X syndrome) is the most notable manifestation of ATRX dysfunction. 26860117 2017
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 GeneticVariation disease BEFREE Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia. 26997013 2016
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 GeneticVariation disease BEFREE In parallel, alpha thalassaemia/mental retardation syndrome X linked (ATRX) gene mutations were also sought, a novel mutation being detected in 1/21 (4,7%) cases. 25925003 2015
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 Biomarker disease BEFREE Here, we identify the SWI/SNF helicase ATRX (α-thalassemia/MR, X-linked) as a novel macroH2A-interacting protein. 22391447 2012
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 GeneticVariation disease BEFREE ATRX is a member of the Snf2 family of chromatin-remodelling proteins and is mutated in an X-linked mental retardation syndrome associated with alpha-thalassaemia (ATR-X syndrome). 21505078 2011
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 GeneticVariation disease BEFREE Mutations in the ATRX protein are associated with the alpha-thalassemia and mental retardation X-linked syndrome (ATR-X). 21421568 2011
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 GeneticVariation disease BEFREE Mutations in the ATRX gene are associated with X-linked mental retardation (XLMR) often accompanied by alpha thalassemia (ATRX syndrome). 20110566 2010
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 GeneticVariation disease BEFREE Acquired mutations in ATRX are observed in the preleukemic condition alpha thalassemia myelodysplastic syndrome (ATMDS). 18409179 2008
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 AlteredExpression disease LHGDN De novo and acquired forms of alpha thalassemia. 16537041 2006
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 GeneticVariation disease BEFREE A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome. 16480427 2006
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 GeneticVariation disease BEFREE In addition, it is unclear whether patients with MDS-associated acquired alpha thalassaemia (ATMDS), a special subgroup with a very high incidence of point mutations in the ATRX gene, have an especially high incidence of RUNX1 mutations. 15613106 2005
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 GeneticVariation disease BEFREE Acquired HbH has recently been associated with mutations in an X-linked gene, ATRX, previously linked to inherited ATR-X syndrome (alpha thalassemia-retardation-X linked). 16266892 2005
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 GeneticVariation disease LHGDN Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations. 14592816 2004
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 GeneticVariation disease LHGDN Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). 12858175 2003
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 GeneticVariation disease BEFREE Using this approach, we have shown that in individuals with myelodysplasia associated with alpha-thalassemia (ATMDS), somatic mutations of the gene encoding the chromatin remodeling factor ATRX cause an unexpectedly severe hematological phenotype compared with the wide spectrum of inherited mutations affecting this gene. 12858175 2003
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 GeneticVariation disease BEFREE Mutations in the ATRX gene on the human X chromosome cause X-linked alpha-thalassemia and mental retardation. 11069290 2000
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 Biomarker disease BEFREE Since the identification of the ATRX gene (synonyms XNP, XH2) in 1995, it has been shown to be the disease gene for numerous forms of syndromal X-linked mental retardation [X-linked alpha thalassemia/mental retardation (ATR-X) syndrome, Carpenter syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, X-linked mental retardation with spastic paraplegia]. 11449489 2000
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 GeneticVariation disease BEFREE A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia. 9043863 1996
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 GeneticVariation disease BEFREE It was shown recently that mutations of the ATRX gene give rise to a severe, X-linked form of syndromal mental retardation associated with alpha thalassaemia (ATR-X syndrome). 8968741 1996
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 Biomarker disease MGD