ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
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
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
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
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.720 Biomarker disease CLINGEN Reduced expression of the ATRX gene, a chromatin-remodeling factor, causes hippocampal dysfunction in mice. 20865721 2011
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.720 Biomarker disease CLINGEN First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability. 20500465 2010
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.720 Biomarker disease CLINGEN Altered visual function and interneuron survival in Atrx knockout mice: inference for the human syndrome. 19088125 2009
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.720 Biomarker disease CLINGEN Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. 17296936 2007
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
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
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.720 Biomarker disease GENOMICS_ENGLAND Alpha thalassaemia-mental retardation, X linked. 16722615 2006
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
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
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.720 GeneticVariation disease UNIPROT Asplenia in ATR-X syndrome: a second report. 16222662 2005
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.720 CausalMutation disease CLINVAR A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. 10632111 2000
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.720 GeneticVariation disease UNIPROT Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. 11050622 2000
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.720 GermlineCausalMutation disease ORPHANET Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. 11050622 2000
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
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
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
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
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.720 Biomarker disease CLINGEN Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome. 10204841 1999
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.720 GeneticVariation disease UNIPROT Carpenter-Waziri syndrome results from a mutation in XNP. 10398237 1999
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.720 GermlineCausalMutation disease ORPHANET Carpenter-Waziri syndrome results from a mutation in XNP. 10398237 1999
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
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
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.720 Biomarker disease GENOMICS_ENGLAND Smith-Fineman-Myers syndrome in apparently monozygotic twins. 9788563 1998
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.720 GermlineCausalMutation disease ORPHANET XNP mutation in a large family with Juberg-Marsidi syndrome. 8630485 1996
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.720 GeneticVariation disease UNIPROT XNP mutation in a large family with Juberg-Marsidi syndrome. 8630485 1996
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
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
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.720 Biomarker disease CTD_human
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.720 GeneticVariation disease CLINVAR