ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs122445110
rs122445110
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma. 28371217 2017
dbSNP: rs122445110
rs122445110
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation 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: C0000772
Disease:
Multiple congenital anomalies 		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: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma. 28371197 2017
dbSNP: rs122445110
rs122445110
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation 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: C0000772
Disease:
Multiple congenital anomalies 		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: rs122445110
rs122445110
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation 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: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome. 24289169 2014
dbSNP: rs122445110
rs122445110
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation 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: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease. 21653732 2011
dbSNP: rs122445110
rs122445110
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation 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: C0000772
Disease:
Multiple congenital anomalies 		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: rs122445110
rs122445110
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Mutations in the chromatin-associated protein ATRX. 18409179 2008
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mutations in the chromatin-associated protein ATRX. 18409179 2008
dbSNP: rs122445110
rs122445110
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Alpha thalassaemia-mental retardation, X linked. 16722615 2006
dbSNP: rs122445110
rs122445110
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR X linked mental retardation: a clinical guide. 16118346 2006
dbSNP: rs122445110
rs122445110
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation 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: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Alpha thalassaemia-mental retardation, X linked. 16722615 2006
dbSNP: rs1557082399
rs1557082399
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease:
Multiple congenital anomalies 		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: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR X linked mental retardation: a clinical guide. 16118346 2006
dbSNP: rs122445110
rs122445110
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome. 12673795 2003
dbSNP: rs122445110
rs122445110
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation 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: C0000772
Disease:
Multiple congenital anomalies 		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: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome. 12673795 2003
dbSNP: rs122445110
rs122445110
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Expanding phenotype of XNP mutations: mild to moderate mental retardation. 12116232 2002