ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Disease: Movement Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma. 28371217 2017
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma. 28371197 2017
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X). 24805811 2015
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome. 24289169 2014
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease. 21653732 2011
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR ATRX marks the inactive X chromosome (Xi) in somatic cells and during imprinted X chromosome inactivation in trophoblast stem cells. 19005673 2009
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Mutations in the chromatin-associated protein ATRX. 18409179 2008
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Alpha thalassaemia-mental retardation, X linked. 16722615 2006
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR X linked mental retardation: a clinical guide. 16118346 2006
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome. 16813605 2006
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). 12858175 2003
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome. 12673795 2003
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Expanding phenotype of XNP mutations: mild to moderate mental retardation. 12116232 2002
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). 12032728 2002
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein. 11015451 2000
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. 11050622 2000
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias. 10417298 1999
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Carpenter-Waziri syndrome results from a mutation in XNP. 10398237 1999
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Germline and gonosomal mosaicism in the ATR-X syndrome. 10602370 1999
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes. 10570185 1999
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. 1415255 1992