|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.
|
16955409 |
2006 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
Biomarker
|
disease |
BEFREE |
ATRX is an SWI/SNF-like chromatin remodeling protein that is mutated in several X-linked mental retardation syndromes, including the ATR-X syndrome.
|
19088125 |
2009 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ATRX germline variations are responsible for the rare genetic disorder X-linked alpha-thalassemia mental retardation (ATR-X) syndrome characterized by severe developmental delay and alpha-thalassemia but no obvious increased risk of cancer.
|
29706636 |
2018 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.
|
8968741 |
1996 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.
|
8968741 |
1996 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
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 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.
|
24898829 |
2014 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel splicing mutation of the ATRX gene in ATR-X syndrome.
|
16376512 |
2006 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein.
|
14990586 |
2004 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.
|
9043863 |
1996 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acquired HbH has recently been associated with mutations in an X-linked gene, ATRX, previously linked to inherited ATR-X syndrome (alpha thalassemia-retardation-X linked).
|
16266892 |
2005 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Alpha thalassaemia-mental retardation, X linked.
|
16722615 |
2006 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alpha-thalassemia mental retardation syndrome (ATR-X syndrome) is the most notable manifestation of ATRX dysfunction.
|
26860117 |
2017 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alpha-thalassemia X-linked intellectual disability (ATRX) syndrome is a genetic syndrome caused by mutation of the ATRX gene associated with chromatin remodeling.
|
25936994 |
2015 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is caused by mutations in ATRX, which encodes a chromatin-remodeling protein.
|
29785027 |
2018 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
Biomarker
|
disease |
BEFREE |
Among these, the most outstanding is ATRX, the causative gene of X-linked alpha-thalassemia/mental retardation.
|
24458433 |
2014 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
Biomarker
|
disease |
BEFREE |
Areas covered: We discuss the main molecular characteristics of ATRX, from its various functions in normal development to the effects of its loss in ATRX syndrome patients and animal models.
|
29889582 |
2018 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deciphering the Molecular Effects of Mutations on ATRX Cause ATRX Syndrome: A Molecular Dynamics Study.
|
28294389 |
2017 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
|
10204841 |
1999 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Expanding phenotype of XNP mutations: mild to moderate mental retardation.
|
12116232 |
2002 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Functional significance of mutations in the Snf2 domain of ATRX.
|
21505078 |
2011 |
|
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we observe rarity of α-thalassemia/mental retardation syndrome X-linked (ATRX) protein loss (surrogate to ATRX mutation) in these tumors without any connotation on prognosis.
|
31115468 |
2019 |