×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
GeneticVariation
disease
BEFREE
SFMS is caused by a mutation in the α‑thalassemia/mental retardation syndrome X‑linked (ATRX ) gene and has an X‑linked recessive pattern.
31746429
2020
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
Biomarker
disease
CLINGEN
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
24805811
2015
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
Biomarker
disease
CLINGEN
Reduced expression of the ATRX gene, a chromatin-remodeling factor, causes hippocampal dysfunction in mice.
20865721
2011
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
Biomarker
disease
CLINGEN
First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability.
20500465
2010
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
Biomarker
disease
CLINGEN
Altered visual function and interneuron survival in Atrx knockout mice: inference for the human syndrome.
19088125
2009
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
Biomarker
disease
CLINGEN
Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.
17296936
2007
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
Biomarker
disease
CLINGEN
ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.
16955409
2006
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
Biomarker
disease
GENOMICS_ENGLAND
Alpha thalassaemia-mental retardation, X linked.
16722615
2006
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
GeneticVariation
disease
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
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
GeneticVariation
disease
UNIPROT
Asplenia in ATR-X syndrome: a second report.
16222662
2005
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
CausalMutation
disease
CLINVAR
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
10632111
2000
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
GeneticVariation
disease
UNIPROT
Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.
11050622
2000
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
GermlineCausalMutation
disease
ORPHANET
Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.
11050622
2000
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
Biomarker
disease
BEFREE
Since the identification of the ATRX gene (synonyms XNP , XH2) in 1995, it has been shown to be the disease gene for numerous forms of syndromal X-linked mental retardation [X-linked alpha thalassemia/mental retardation (ATR-X) syndrome, Carpenter syndrome, Juberg-Marsidi syndrome , Smith-Fineman-Myers syndrome, X-linked mental retardation with spastic paraplegia].
11449489
2000
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
GeneticVariation
disease
UNIPROT
Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.
10751095
2000
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
Biomarker
disease
CLINGEN
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
10204841
1999
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
GeneticVariation
disease
UNIPROT
Carpenter-Waziri syndrome results from a mutation in XNP .
10398237
1999
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
GermlineCausalMutation
disease
ORPHANET
Carpenter-Waziri syndrome results from a mutation in XNP .
10398237
1999
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
Biomarker
disease
GENOMICS_ENGLAND
Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers.
9598720
1998
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
Biomarker
disease
GENOMICS_ENGLAND
Smith-Fineman-Myers syndrome in apparently monozygotic twins.
9788563
1998
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
GermlineCausalMutation
disease
ORPHANET
XNP mutation in a large family with Juberg-Marsidi syndrome .
8630485
1996
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
GeneticVariation
disease
UNIPROT
XNP mutation in a large family with Juberg-Marsidi syndrome .
8630485
1996
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
Biomarker
disease
GENOMICS_ENGLAND
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
7697714
1995
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
Biomarker
disease
CTD_human
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.720
GeneticVariation
disease
CLINVAR