Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Mutations in the chromatin-associated protein ATRX. 18409179

2008
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 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
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease. 21653732

2011
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma. 28371217

2017
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma. 28371197

2017
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). 12858175

2003
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma. 28371217

2017
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Expanding phenotype of XNP mutations: mild to moderate mental retardation. 12116232

2002
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. 1415255

1992
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 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
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Carpenter-Waziri syndrome results from a mutation in XNP. 10398237

1999
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. 11050622

2000
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X). 24805811

2015
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome. 12673795

2003
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation 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
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR X linked mental retardation: a clinical guide. 16118346

2006
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). 12858175

2003
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X). 24805811

2015
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome. 24289169

2014
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR ATRX marks the inactive X chromosome (Xi) in somatic cells and during imprinted X chromosome inactivation in trophoblast stem cells. 19005673

2009
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 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
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein. 11015451

2000
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Expanding phenotype of XNP mutations: mild to moderate mental retardation. 12116232

2002
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR X linked mental retardation: a clinical guide. 16118346

2006
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. 11050622

2000