DisGeNET - a database of gene-disease associations

ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38

Disease: Juberg-Marsidi syndrome ×

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:

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:

rs122445101

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.800

GeneticVariation

UNIPROT

Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

11050622

2000

dbSNP:

rs122445101

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.800

GeneticVariation

UNIPROT

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.

10751095

2000

dbSNP:

rs122445101

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.800

GeneticVariation

UNIPROT

Carpenter-Waziri syndrome results from a mutation in XNP.

10398237

1999

dbSNP:

rs122445101

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.800

GeneticVariation

UNIPROT

XNP mutation in a large family with Juberg-Marsidi syndrome.

8630485

1996

dbSNP:

rs122445101

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs122445109

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.700

GeneticVariation

UNIPROT

Asplenia in ATR-X syndrome: a second report.

16222662

2005

dbSNP:

rs122445109

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.700

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:

rs122445110

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.700

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:

rs122445110

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.700

GeneticVariation

UNIPROT

Asplenia in ATR-X syndrome: a second report.

16222662

2005

dbSNP:

rs122445111

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.700

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:

rs122445111

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.700

GeneticVariation

UNIPROT

Asplenia in ATR-X syndrome: a second report.

16222662

2005

dbSNP:

rs122445112

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.700

GeneticVariation

UNIPROT

Asplenia in ATR-X syndrome: a second report.

16222662

2005

dbSNP:

rs122445112

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.700

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:

rs122445108

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.700

CausalMutation

CLINVAR

A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.

10632111

2000

dbSNP:

rs122445109

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.700

GeneticVariation

UNIPROT

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.

10751095

2000

dbSNP:

rs122445109

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.700

GeneticVariation

UNIPROT

Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

11050622

2000

dbSNP:

rs122445110

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.700

GeneticVariation

UNIPROT

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.

10751095

2000

dbSNP:

rs122445110

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.700

GeneticVariation

UNIPROT

Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

11050622

2000

dbSNP:

rs122445111

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.700

GeneticVariation

UNIPROT

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.

10751095

2000

dbSNP:

rs122445111

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.700

GeneticVariation

UNIPROT

Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

11050622

2000

dbSNP:

rs122445112

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.700

GeneticVariation

UNIPROT

Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

11050622

2000

dbSNP:

rs122445112

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.700

GeneticVariation

UNIPROT

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.

10751095

2000

dbSNP:

rs122445109

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

CUI:	C0796003
Disease:

Juberg-Marsidi syndrome

0.700

GeneticVariation

UNIPROT

Carpenter-Waziri syndrome results from a mutation in XNP.

10398237

1999