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 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 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 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 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 CausalMutation CLINVAR Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). 12032728

2002
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032). 12032728

2002
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 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 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 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 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 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 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 Germline and gonosomal mosaicism in the ATR-X syndrome. 10602370

1999
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Germline and gonosomal mosaicism in the ATR-X syndrome. 10602370

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 CausalMutation 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 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 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 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 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 Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes. 10570185

1999