Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.200 GeneticVariation disease BEFREE Alpha-thalassemia mental retardation syndrome (ATR-X syndrome) is the most notable manifestation of ATRX dysfunction. 26860117 2017
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.200 GeneticVariation disease BEFREE The two subjects with the mutations in the coding region had family members with mental retardation, which suggests that the novel frame shift mutation and the missense mutation at coding region of ATRX gene are involved in ATRX syndrome. 25976463 2015
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.200 Biomarker disease BEFREE ATRX is a severe X-linked disorder characterized by mental retardation, facial dysmorphism, urogenital abnormalities and alpha-thalassemia. 20602808 2010
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.200 Biomarker disease BEFREE Detailed comparison of the clinical characteristics and the function of the genes located in the commonly duplicated regions of these patients led us to the hypothesis that an increased dosage of ATRX and perhaps of other genes is involved in the pathogenetic mechanism of this XLMR phenotype, including mental retardation, short stature, and genital abnormalities comprising cryptorchidism and/or a small penis. 19291773 2009
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.200 Biomarker disease BEFREE We propose that disruption of the MeCP2-ATRX interaction leads to pathological changes that contribute to mental retardation. 17296936 2007
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.200 GeneticVariation disease BEFREE Mutations in the X-encoded gene ATRX are known to give rise to syndromic mental retardation in male patients whereas female carriers show preferential inactivation of the mutated X chromosome and appear healthy. 16955409 2006
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.200 GeneticVariation disease BEFREE These findings suggest that mutations in ATRX may cause mental retardation in females, if the X chromosome carrying mutated ATRX is not properly inactivated. 16100724 2005
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.200 GeneticVariation disease BEFREE Mutations in the XNP gene have been reported in alpha thalassemia/mental retardation (MR) syndrome (ATR-X) and other severe X-linked MR conditions with facial dysmorphisms. 12116232 2002
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.200 Biomarker disease BEFREE Given that molecular investigation of XNP/ATR-X mutations is made onerous by the length of the gene transcript, we carried out a prenatal diagnosis in a fetus at risk for ATR-X syndrome by initially determining the XNP/ATR-X gene haplotype before considering gene sequencing. 11559911 2001
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.200 GeneticVariation disease BEFREE These data provide insights into the understanding of the functional significance of XNP/ATR-X mutations. 11015451 2000
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.200 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
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.200 GeneticVariation disease BEFREE Mutations in the ATRX gene on the human X chromosome cause X-linked alpha-thalassemia and mental retardation. 11069290 2000
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.200 GeneticVariation disease BEFREE Mutations in the ATRX gene should be considered as a cause of mild MR in male patients lacking specific diagnostic features. 10632111 2000
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.200 Biomarker disease BEFREE This fact, along with the phenotypic similarity between our patients and ATR-X males, led us to consider XNP as a candidate gene for this family. 10398234 1999
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.200 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
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.200 CausalMutation disease CLINVAR