DisGeNET - a database of gene-disease associations

ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38

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

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:

rs122445095

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C1845055
Disease:

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

0.800

GeneticVariation

UNIPROT

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).

7697714

1995

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

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).

7697714

1995

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

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).

7697714

1995

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

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).

7697714

1995

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

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).

7697714

1995

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

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).

7697714

1995

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

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).

7697714

1995

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

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).

7697714

1995

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 encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.

8968741

1996

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 point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.

9043863

1996

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 encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.

8968741

1996

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

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.

9043863

1996

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

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.

9043863

1996

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 encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.

8968741

1996

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 encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.

8968741

1996

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

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.

9043863

1996

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

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.

9043863

1996

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 encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.

8968741

1996

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

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.

9043863

1996

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 encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.

8968741

1996

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 encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.

8968741

1996

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

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.

9043863

1996

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 encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.

8968741

1996

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

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.

9043863

1996

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 encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.

8968741

1996