Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1.000 GeneticVariation UNIPROT The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9. 21421568

2011
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1.000 GeneticVariation UNIPROT Here, we describe a 4-year-old girl with typical features of ATRX syndrome, carrying the recurrent R246C mutation of ATRX. 16955409

2006
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1.000 GeneticVariation UNIPROT A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein. 14990586

2004
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1.000 GeneticVariation UNIPROT Expanding phenotype of XNP mutations: mild to moderate mental retardation. 12116232

2002
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1.000 GeneticVariation UNIPROT Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). 10995512

2000
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1.000 GeneticVariation UNIPROT Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome. 10204841

1999
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1.000 GeneticVariation UNIPROT 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: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1.000 GeneticVariation UNIPROT New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online. 10660327

1998
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1.000 GeneticVariation UNIPROT Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. 9326931

1997
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1.000 GeneticVariation UNIPROT A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia. 9043863

1996
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1.000 GeneticVariation UNIPROT ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. 8968741

1996
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1.000 GeneticVariation UNIPROT Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). 7697714

1995