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 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 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 CausalMutation 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 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 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 CausalMutation 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 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 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 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 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 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 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 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 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 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 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 GeneticVariation CLINVAR Alpha thalassaemia-mental retardation, X linked. 16722615

2006

Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Alpha thalassaemia-mental retardation, X linked. 16722615

2006

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 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 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 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 Expanding phenotype of XNP mutations: mild to moderate mental retardation. 12116232

2002