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

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

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 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 CausalMutation CLINVAR X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. 1415255

1992