DisGeNET - a database of gene-disease associations

ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057518708

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.

21421568

2011

dbSNP:

rs122445093

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.

21421568

2011

dbSNP:

rs122445094

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.

21421568

2011

dbSNP:

rs122445095

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.

21421568

2011

dbSNP:

rs122445096

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.

21421568

2011

dbSNP:

rs122445097

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.

21421568

2011

dbSNP:

rs122445098

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.

21421568

2011

dbSNP:

rs122445103

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.

21421568

2011

dbSNP:

rs122445104

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.

21421568

2011

dbSNP:

rs122445105

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.

21421568

2011

dbSNP:

rs122445106

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.

21421568

2011

dbSNP:

rs1057518708

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

16955409

2006

dbSNP:

rs122445093

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

16955409

2006

dbSNP:

rs122445094

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

16955409

2006

dbSNP:

rs122445095

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

16955409

2006

dbSNP:

rs122445096

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

16955409

2006

dbSNP:

rs122445097

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

16955409

2006

dbSNP:

rs122445098

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

16955409

2006

dbSNP:

rs122445103

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

16955409

2006

dbSNP:

rs122445104

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

16955409

2006

dbSNP:

rs122445105

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

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

dbSNP:

rs122445106

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

16955409

2006

dbSNP:

rs122445101

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.800

GeneticVariation

UNIPROT

A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.

15565397

2005

dbSNP:

rs122445101

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.800

GeneticVariation

UNIPROT

Asplenia in ATR-X syndrome: a second report.

16222662

2005

dbSNP:

rs1057518708

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED

0.800

GeneticVariation

UNIPROT

A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein.

14990586

2004