ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs122445095
rs122445095
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		0.800 GeneticVariation UNIPROT The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9. 21421568 2011
dbSNP: rs122445095
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 syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern. 16955409 2006
dbSNP: rs122445095
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 novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein. 14990586 2004
dbSNP: rs122445095
rs122445095
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		0.800 GeneticVariation UNIPROT Expanding phenotype of XNP mutations: mild to moderate mental retardation. 12116232 2002
dbSNP: rs122445095
rs122445095
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		0.800 GeneticVariation UNIPROT Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). 10995512 2000
dbSNP: rs122445095
rs122445095
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		0.800 GeneticVariation UNIPROT Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias. 10417298 1999
dbSNP: rs122445095
rs122445095
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		0.800 GeneticVariation UNIPROT Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome. 10204841 1999
dbSNP: rs122445095
rs122445095
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		0.800 GeneticVariation UNIPROT New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online. 10660327 1998
dbSNP: rs122445095
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 transcriptional regulator ATRX establish the functional significance of a PHD-like domain. 9326931 1997
dbSNP: rs122445095
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
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: rs122445095
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: rs122445095
rs122445095
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1845055
Disease:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		A 0.800 CausalMutation CLINVAR